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class="region__highlight--inner region--inner"> <div data-drupal-messages-fallback class="hidden"></div> </div> </section> <main role="main"> <a id="main-content" tabindex="-1"></a> <div class="layout-content"> <section class="region region__content"> <div class="region__content--inner region--inner"> <section id="block-bccrc-content" class="block block--system-main-block block-bccrc-content"> <article role="article" about="/glossary" typeof="schema:WebPage" class="node node--page full"> <span property="schema:name" content="Glossary" class="hidden"></span> <div property="schema:text" class="field field--body"><p><a href="#A">A</a> <a href="#B">B</a> <a href="#C">C</a> <a href="#D">D</a> <a href="#E">E</a> <a href="#F">F</a> <a href="#G">G</a> <a href="#H">H</a> <a href="#I">I</a> <a href="#J">J</a> <a href="#K">K</a> <a href="#L">L</a> <a href="#M">M</a> <a href="#N">N</a> <a href="#O">O</a> <a href="#P">P</a> <a href="#Q">Q</a> <a href="#R">R</a> <a href="#S">S</a> <a href="#T">T</a> <a href="#U">U</a> <a href="#V">V</a> <a href="#W">W</a> <a href="#X">X</a> <a href="#Y">Y</a> <a href="#Z">Z</a></p> </div> </article> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--441"> <div class="inner"> <div class="field field--summary"> <h2 id="A">A</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--991"> <h2 class="section__title" data-expand="field--field_text">Active site</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The active site is the specific region of an enzyme, present in all enzymes, where an enzyme substrate normally binds to undergo a chemical reaction.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="acute-myeloid-leukemia"> <h2 class="section__title" data-expand="field--field_text">Acute myeloid leukemia</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Acute Myeloid Leukemia (AML) is a type of <a href="https://www.bcgsc.ca/glossary#cancer">cancer</a> in which abnormal white blood cells (myeloblasts), red blood cells, or platelets are produced in the bone marrow.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="allele"> <h2 class="section__title" data-expand="field--field_text">Allele</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>An Allele is an alternate version of the same <a href="https://www.bcgsc.ca/glossary#gene">gene</a>. Within the human population, for example, every individual has genes that determine their physical characteristics. Variations in these genes lead to variations in appearance.</p> <hr /><p><img alt="alleles" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/alleles.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="alternative-cleavage"> <h2 class="section__title" data-expand="field--field_text">Alternative cleavage</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The phenomenon where the poly-A tail of an RNA transcript can be cleaved at more than one location, thus producing poly-A tails of variable lengths.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="alternative-splicing"> <h2 class="section__title" data-expand="field--field_text">Alternative splicing</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Alternative splicing is a process that allows cells to produce more than one different <a href="https://www.bcgsc.ca/glossary#protein">protein</a> from one single <a href="https://www.bcgsc.ca/glossary#gene">gene</a>.</p> <p>Protein-coding genes contain regions of <a href="https://www.bcgsc.ca/glossary#dna">DNA</a> called <strong>introns</strong> and <strong>exons</strong>. The exons code for a protein product, while the introns do not. Following <a href="https://www.bcgsc.ca/glossary#transcription">transcription</a>, the introns must be removed from the <a href="https://www.bcgsc.ca/glossary#mrna">mRNA</a> by a process called <strong>splicing</strong>. In the process, cells can also remove exons to create different combinations of exons in the spliced mRNA, leading to different protein products.</p> <hr /><p><img alt="Alternative splicing" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/Alternative%20splicing.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="alternative-transcriptional-initiation"> <h2 class="section__title" data-expand="field--field_text">Alternative transcriptional initiation</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The phenomenon where an individual gene has more than one transcriptional start site.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="amino-acid"> <h2 class="section__title" data-expand="field--field_text">Amino acid</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Amino acids are the building blocks that make up <a href="https://www.bcgsc.ca/glossary#protein">proteins</a>. Each protein is coded by a protein-coding <a href="https://www.bcgsc.ca/glossary#gene">gene</a>. When a gene (<a href="https://www.bcgsc.ca/glossary#dna">DNA</a>) is <a href="https://www.bcgsc.ca/glossary#transcription">transcribed</a> into <a href="https://www.bcgsc.ca/glossary#mrna">mRNA</a>, the code is read in groups of three <a href="https://www.bcgsc.ca/glossary#nucleotide">nucleotides</a>, called a <a href="https://www.bcgsc.ca/glossary#codon">codon</a>. Each codon codes for an amino acid. There are 20 different amino acids that make up the proteins in our bodies.</p> <hr /><p><img alt="Amino acids" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/Amino%20acids.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--1024"> <h2 class="section__title" data-expand="field--field_text">Animal models</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A non-human species used in research because it can mimic aspects of a disease found in humans. Unlike laboratory cell lines, animals comprise multiple cell types, organs, circulatory systems, and other systems. Often considered the best approximation of a human body.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--973"> <h2 class="section__title" data-expand="field--field_text">Antibiotics</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A medicinal drug (such as penicillin or its derivatives) that inhibits the growth of or destroys microorganisms or pathogens that can cause illness. Antibiotics are powerful medicines used to treat certain illnesses and fight bacterial infections.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="apoptosis"> <h2 class="section__title" data-expand="field--field_text">Apoptosis</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Apoptosis is programmed cell death. When triggered, a <a href="https://www.bcgsc.ca/glossary#cell">cell</a> will undergo an orderly process in which the cellular contents are packaged and discarded. The immune system will then clear the cellular remnants.</p> <hr /><p><img alt="apoptosis" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/Apoptosis.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--1056"> <h2 class="section__title" data-expand="field--field_text">Artifact</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>In genetics, an artifact is a result that does not represent the true biological material, function, or situation but arises from a technical, often artificial, process (e.g., next generation sequencing artifacts can arise during the alignment or assembly of sequencing reads).</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="autophagy"> <h2 class="section__title" data-expand="field--field_text">Autophagy</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A regulated process in the <a href="https://www.bcgsc.ca/glossary#cell">cell</a> that removes unnecessary or dysfunctional components, breaking them down and reusing their building blocks.</p> <hr /><p><img alt="autophagy" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/autophagy%202.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="autosome"> <h2 class="section__title" data-expand="field--field_text">Autosome</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>An autosome is any <a href="https://www.bcgsc.ca/glossary#chromosome">chromosome</a> that is not a sex chromosome. Humans have 23 pairs of chromosomes—22 pairs of autosomes and one pair of sex chromosomes (<a href="https://www.bcgsc.ca/glossary#x-chromosome">X chromosome</a> and <a href="https://www.bcgsc.ca/glossary#y-chromosome">Y chromosome</a>).</p> <hr /><p><img alt="Human Genome" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/human%20genome.png" class="align-center" /></p></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--448"> <div class="inner"> <div class="field field--summary"> <h2 id="B">B</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="bacterium"> <h2 class="section__title" data-expand="field--field_text">Bacterium</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A single-celled microorganism. Bacteria are prokaryotic cells, meaning that unlike human, animal, plant and fungi cells they lack internal membrane-bound structures (including an <a href="https://www.bcgsc.ca/glossary#nucleus">nucleus</a>). Bacteria may be commensal, meaning they do not cause disease, or <a href="https://www.bcgsc.ca/glossary#pathogen">pathogenic</a>. </p> <hr /><img alt="Bacteria" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/bacteria.png" class="align-center" /></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="base-pair"> <h2 class="section__title" data-expand="field--field_text">Base pair</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A base pair is formed when two <a href="https://www.bcgsc.ca/glossary#nucleotide">nucleotides</a>, the building blocks of <a href="https://www.bcgsc.ca/glossary#dna">DNA</a>, form bonds with each other to hold the two strands of the DNA double helix together. Base pairs form between <a href="https://www.bcgsc.ca/glossary#complementary">complementary</a> nucleotides: <strong>A</strong>denine (A) forms base pairs with <strong>T</strong>hymine (T) and <strong>U</strong>racil (U) and DNA and <a href="https://www.bcgsc.ca/glossary#rna">RNA</a>, respectively, while<strong> C</strong>ytosine (C) forms base pairs with <strong>G</strong>uanine (G). </p> <hr /><p><img alt="base pair" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/GSC/DNA.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="bioinformatics"> <h2 class="section__title" data-expand="field--field_text">Bioinformatics</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Bioinformatics is an interdisciplinary field that develops methods and software tools for understanding biological data, in particular when the data sets are large and complex.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="biomarker"> <h2 class="section__title" data-expand="field--field_text">Biomarker</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>In medicine, a biomarker is a measurable indicator of the severity or presence of some disease state. More generally a biomarker is anything that can be used as an indicator of a particular disease state or some other physiological state of an organism.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="biospecimen"> <h2 class="section__title" data-expand="field--field_text">Biospecimen</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A sample of material, such as urine, blood, tissue, <a href="https://www.bcgsc.ca/glossary#cell">cells</a>, <a href="https://www.bcgsc.ca/glossary#dna">DNA</a>, <a href="https://www.bcgsc.ca/glossary#rna">RNA</a>, or <a href="https://www.bcgsc.ca/glossary#protein">protein</a>, from humans, animals, or plants.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--1053"> <h2 class="section__title" data-expand="field--field_text">Bloom filters</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Bloom filters are a space-efficient probabilistic data structure designed to rapidly and efficiently store elements and test whether an element is present in a set. For example, checking quickly to see if a username is available where the set here is the list of all registered usernames.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--980"> <h2 class="section__title" data-expand="field--field_text">Bone marrow</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The spongy tissue (also referred to as the “myeloid tissue”) inside bones where blood cells—red (erythrocytes), white (leukocytes), and/or platelets (thrombocytes)—are differentiated from stem cells.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="brca1-brca2"> <h2 class="section__title" data-expand="field--field_text">BRCA1/BRCA2</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p><em>BRCA1</em> and <em>BRCA2</em> are human <a href="https://www.bcgsc.ca/glossary#gene">genes</a> that code for <a href="https://www.bcgsc.ca/glossary#tumour-suppressor-gene">tumour suppressor</a> proteins which help repair damaged <a href="https://www.bcgsc.ca/glossary#dna">DNA</a>, helping to maintain the stability of each cell’s genetic material. When either of these genes is <a href="https://www.bcgsc.ca/glossary#mutation">mutated</a>, leading to a protein product that is either not made at all or does not function properly, the <a href="https://www.bcgsc.ca/glossary#cell">cell</a> cannot repair DNA damage effectively. Cells with mutations in these genes are prone to genetic alterations that can lead to <a href="https://www.bcgsc.ca/glossary#cancer">cancer</a>.</p></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--455"> <div class="inner"> <div class="field field--summary"> <h2 id="C">C</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="cancer"> <h2 class="section__title" data-expand="field--field_text">Cancer</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Cancer is the result of <a href="https://www.bcgsc.ca/glossary#dna">DNA</a> <a href="https://www.bcgsc.ca/glossary#mutation">mutations</a> which cause <a href="https://www.bcgsc.ca/glossary#cell">cells</a> divide uncontrollably and spread into surrounding tissues.</p> <hr /><p><img alt="art" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Artboard%201.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="carrier"> <h2 class="section__title" data-expand="field--field_text">Carrier</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>An individual that has <a href="https://www.bcgsc.ca/glossary#inherited">inherited</a> a <a href="https://www.bcgsc.ca/glossary#gene">gene</a> or <a href="https://www.bcgsc.ca/glossary#mutation">mutation</a> associated with a particular trait or disease, but usually does not display that trait or show symptoms of the disease.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="cell"> <h2 class="section__title" data-expand="field--field_text">Cell</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The smallest structural and functional unit of an organism, typically microscopic and consisting of cytoplasm and a <a href="https://www.bcgsc.ca/glossary#nucleus">nucleus</a> enclosed in a membrane.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="cell-cycle"> <h2 class="section__title" data-expand="field--field_text">Cell cycle</h2> <div class="field field--field_expanding_summary"></div> <button class="icon" data-expand></button> <div class="field field--field_text"> <p>A series of events that take place in a cell as it grows and divides. </p> <p><img alt="cell cycle" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Cell%20Cycle%20%28for%20glossary%29.png" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--940"> <h2 class="section__title" data-expand="field--field_text">Cellular Differentiation</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The normal process by which a cell matures into a more specialized cell with a distinct form and function.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="chemotherapy"> <h2 class="section__title" data-expand="field--field_text">Chemotherapy</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A type of <a href="https://www.bcgsc.ca/glossary#cancer">cancer</a> treatment that uses one or more anti-cancer drug(s) to target and eliminate cancerous cells.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="chromatin"> <h2 class="section__title" data-expand="field--field_text">Chromatin</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A complex of <a href="https://www.bcgsc.ca/glossary#dna">DNA</a> and <a href="https://www.bcgsc.ca/glossary#protein">protein</a> found in the <a href="https://www.bcgsc.ca/glossary#cell">cell’s</a> <a href="https://www.bcgsc.ca/glossary#nucleus">nucleus</a>. The DNA carries the cell’s genetic information while the proteins, called <a href="https://www.bcgsc.ca/glossary#histone">histones</a>, help package, organize and regulate the genetic material.</p> <hr /><p><img alt="DNA packaging" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/dna%20packaging%202.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="chromosome"> <h2 class="section__title" data-expand="field--field_text">Chromosome</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A long piece of <a href="https://www.bcgsc.ca/glossary#dna">DNA</a> containing part or all of the genetic material, or <a href="https://www.bcgsc.ca/glossary#genome">genome</a>, of an organism. Human genomes are made up of 23 pairs of <a href="https://www.bcgsc.ca/glossary#chromosome">chromosomes</a> to give 46 chromosomes total.</p> <hr /><p><img alt="Human Genome" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/human%20genome.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="clinical-trial"> <h2 class="section__title" data-expand="field--field_text">Clinical trial</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Once scientists have demonstrated the potential of a particular medical intervention in the laboratory setting, a clinical trial is done to find out whether these promising approaches to disease prevention, diagnosis and treatment are safe and effective when used on patients.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="codon"> <h2 class="section__title" data-expand="field--field_text">Codon</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>During protein synthesis (<a href="https://www.bcgsc.ca/glossary#translation">translation</a>), the <a href="https://www.bcgsc.ca/glossary#mrna">mRNA</a> is read in groups of three bases, called codons, that “code” for a particular <a href="https://www.bcgsc.ca/glossary#amino-acid">amino acid</a> in the <a href="https://www.bcgsc.ca/glossary#protein">protein</a> product. There are 64 three-letter codons that together code for the 20 amino acids that make up proteins. </p> <hr /><p><img alt="Codons" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/Amino%20acids.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--993"> <h2 class="section__title" data-expand="field--field_text">Competitive inhibition</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Competitive inhibition is a type of enzyme inhibition where an inhibitor (e.g., small molecule compound/drug, other protein, etc.) outcompetes a substrate for binding to an enzyme’s active site and prevents the enzyme from functioning properly.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="complementary"> <h2 class="section__title" data-expand="field--field_text">Complementary </h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A property of <a href="https://www.bcgsc.ca/glossary#nucleotides">nucleotides</a>, whereby <strong>A</strong>denine (A) always pairs with <strong>T</strong>hymine (T) or <strong>U</strong>racil (U) in <a href="https://www.bcgsc.ca/glossary#dna">DNA</a> and <a href="https://www.bcgsc.ca/glossary#rna">RNA</a>, respectively, while<strong> C</strong>ytosine (C) always pairs with <strong>G</strong>uanine (G). The DNA double helix is made up of two strands of DNA held together by complementary <a href="https://www.bcgsc.ca/glossary#base-pair">base pairs</a>.</p> <hr /><p><img alt="Base pair" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/GSC/DNA.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="conserved-gene"> <h2 class="section__title" data-expand="field--field_text">Conserved gene</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A <a href="https://www.bcgsc.ca/glossary#gene">gene</a> that is similar across all members of a species, meaning that it has remained consistent throughout evolution of that species. This usually means that the gene is necessary for survival.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="copy-number-variation"> <h2 class="section__title" data-expand="field--field_text">Copy number variation</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A copy number variation (CNV) is when the number of copies of a <a href="https://www.bcgsc.ca/glossary#gene">gene</a> differs from one individual to the next. CNVs occur when sections of the <a href="https://www.bcgsc.ca/glossary#genome">genome</a> are repeated, and the number of repeats varies between individuals. CNVs can occur due to <a href="https://www.bcgsc.ca/glossary#duplication">duplication</a> or <a href="https://www.bcgsc.ca/glossary#deletion">deletion</a> events in the genome.</p> <hr /><p><img alt="structural variants" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/structural%20variations.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--467"> <div class="inner"> <div class="field field--summary"> <h2 id="D">D</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--915"> <h2 class="section__title" data-expand="field--field_text">De novo genome assembly</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Building a contiguous genome sequence from multiple smaller DNA fragments assuming no prior knowledge of the source DNA sequence length, layout, or composition (e.g., without the use of a reference genome). <em>De novo</em> is Latin for “of new” or “from the beginning”.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="deletion"> <h2 class="section__title" data-expand="field--field_text">Deletion</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A genetic <a href="https://www.bcgsc.ca/glossary#mutation">mutation</a> in which a part of a <a href="https://www.bcgsc.ca/glossary#chromosome">chromosome</a>, ranging from a single <a href="https://www.bcgsc.ca/glossary#base-pair">base pair</a> to a large piece of chromosome, is left out during DNA replication. This leads to a cell in which a portion of the <a href="https://www.bcgsc.ca/glossary#genome">genome</a> is missing.</p> <hr /><p><img alt="structural variants" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/structural%20variations.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="dna"> <h2 class="section__title" data-expand="field--field_text">Deoxyribonucelic acid (DNA)</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>DNA, which stands for deoxyribonucleic acid, is the biological molecule that codes for a living organism. DNA is a <a href="https://www.bcgsc.ca/glossary#nucleic-acid">nucleic acid</a>—a long chain of <a href="https://www.bcgsc.ca/glossary#nucleotide">nucleotides</a>. The DNA double helix is composed of two strands of nucleotides paired together by <a href="https://www.bcgsc.ca/glossary#complementary">complimentary</a> <a href="https://www.bcgsc.ca/glossary#base-pair">base pairs</a>. </p> <hr /><p><img alt="DNA" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/GSC/DNA.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--941"> <h2 class="section__title" data-expand="field--field_text">DNA demethylation</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>An epigenetic process in which biochemicals, called methyl groups, are removed from Cytosine (C) nucleotides in the promoter region of a gene. The addition or removal of methyl groups regulates gene expression. See <a href="https://www.bcgsc.ca/glossary#dna-demethylation">DNA methylation</a>.<br /> </p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="dna-methylation"> <h2 class="section__title" data-expand="field--field_text">DNA methylation</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>An <a href="https://www.bcgsc.ca/glossary#epigenetic">epigenetic</a> process in which biochemicals, called methyl groups, are added onto Cytosine (C) <a href="https://www.bcgsc.ca/glossary#nucleotide">nucleotides</a> in the <a href="https://www.bcgsc.ca/glossary#promoter">promoter</a> region of a <a href="https://www.bcgsc.ca/glossary#gene">gene</a>. The addition or removal of methyl groups regulates <a href="https://www.bcgsc.ca/glossary#gene-expression">gene expression</a>.</p> <hr /><p><img alt="DNA methylation" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/DNA%20methylation.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="dna-sequencing-"> <h2 class="section__title" data-expand="field--field_text">DNA sequencing </h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The process of determining the order of <a href="https://www.bcgsc.ca/glossary#nucleotide">nucleotides</a> in <a href="https://www.bcgsc.ca/glossary#dna">DNA</a>. It can be used to identify genetic <a href="https://www.bcgsc.ca/glossary#mutation">mutations</a> present in the DNA of an individual or in a <a href="https://www.bcgsc.ca/glossary#cancer">cancer</a> sample.</p> <hr /><p><img alt="DNA sequencing" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/DNA%20sequencing.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="driver-mutation"> <h2 class="section__title" data-expand="field--field_text">Driver mutation</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A genetic <a href="https://www.bcgsc.ca/glossary#mutation">mutation</a> that gives <a href="https://www.bcgsc.ca/glossary#cancer">cancer</a> cells a growth advantage, leading to rapid reproduction and growth.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--473"> <h2 class="section__title" data-expand="field--field_text">Drug target</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A biological molecule that has been shown to be critical for development of a disease. Scientists aim to develop drugs that block this molecule in order to treat or prevent disease.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="duplication"> <h2 class="section__title" data-expand="field--field_text">Duplication</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A type of genetic <a href="https://www.bcgsc.ca/glossary#mutation">mutation</a> that involves the duplication of one or more copies of a <a href="https://www.bcgsc.ca/glossary#gene">gene</a> or region of a <a href="https://www.bcgsc.ca/glossary#chromosome">chromosome</a>.</p> <hr /><p><img alt="structural variants" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/structural%20variations.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--477"> <div class="inner"> <div class="field field--summary"> <h2 id="E">E</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--1011"> <h2 class="section__title" data-expand="field--field_text">Endocytosis</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The process by which cells take in substances from outside of the cell by engulfing them in a vesicle.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="enzyme"> <h2 class="section__title" data-expand="field--field_text">Enzyme</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A <a href="https://www.bcgsc.ca/glossary#protein">protein</a> that acts as a biological catalyst for a chemical reaction. Enzymes speed up biochemical reactions by converting one molecule, called a substrate, into a product. In order for a reaction to proceed, the substrate—upon which the chemical reaction is occurring—binds the enzyme at a specific region known as the active site. Note that while all enzymes are proteins, not all proteins are enzymes.To date, there are approximately 75,000 different enzymes that catalyze reactions in the human body. </p> <hr /><p><img alt="enzyme" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/Enzyme.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="epigenetics"> <h2 class="section__title" data-expand="field--field_text">Epigenetics</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The study of biochemical modifications to the <a href="https://www.bcgsc.ca/glossary#genome">genome</a>, either to the <a href="https://www.bcgsc.ca/glossary#dna">DNA</a> itself through <a href="https://www.bcgsc.ca/glossary#dna-methylation">DNA methylation</a>, or to the DNA packaging proteins called <a href="https://www.bcgsc.ca/glossary#histone">histones</a>, to regulate <a href="https://www.bcgsc.ca/glossary#gene-expression">gene expression</a>.</p> <hr /><p><img alt="epigenetics" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/epigenetics%20main%20figure.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="epigenome"> <h2 class="section__title" data-expand="field--field_text">Epigenome</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The complete set of all the heritable, chemical modifications (<a href="https://www.bcgsc.ca/glossary#epigenetics">epigenetic</a> modifications or marks) made to DNA and histone proteins within a cell, tissue, organism, or sample, that regulate the genome without altering the underlying DNA sequence composition.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="epigenomics"> <h2 class="section__title" data-expand="field--field_text">Epigenomics</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The study of the complete set of <a href="https://www.bcgsc.ca/glossary#epigenetics">epigenetic</a> modifications in an organism’s genome.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="eukaryote"> <h2 class="section__title" data-expand="field--field_text">Eukaryote</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>An organism whose cells have their DNA enclosed in a membrane-bound compartment called a <a href="https://www.bcgsc.ca/glossary#nucleus">nucleus</a>, unlike <a href="https://www.bcgsc.ca/glossary#prokaryote">prokaryoti</a>c cells which do not have any membrane-bound <a href="https://www.bcgsc.ca/glossary#organelle">organelles</a>.</p> <hr /><p><img alt="eukaryote" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/bacteria.png" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--998"> <h2 class="section__title" data-expand="field--field_text">Ex vivo</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>In Latin, <em>ex vivo</em> means, “outside of the living body”. The samples to be tested have been extracted from the organism.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--1009"> <h2 class="section__title" data-expand="field--field_text">Extracellular vesicles</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Extracellular vesicles (EVs) are membrane-bound “capsules” or particles that are naturally released from almost all cells for the purposes of cell-to-cell communication and transporting cargo between cells. Unlike cells, EVs cannot replicate. Examples of EVs include small EVs, exosomes and microvesicles.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="exome-sequencing"> <h2 class="section__title" data-expand="field--field_text">Exome sequencing</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Exome sequencing, also known as whole exome sequencing (WES) is a <a href="https://www.bcgsc.ca/glossary#dna-sequencing">DNA sequencing</a> technique focused on the portion of the <a href="https://www.bcgsc.ca/glossary#genome">genome</a> that codes for <a href="https://www.bcgsc.ca/glossary#protein">proteins</a>, known as the exome. The exome comprises only 1% of the genome.</p></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--481"> <div class="inner"> <div class="field field--summary"> <h2 id="F">F</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="ffpe"> <h2 class="section__title" data-expand="field--field_text">Formalin-fixed paraffin-embedded tissue</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Formalin-fixed paraffin-embedded (FFPE) tissues have undergone a specific laboratory technique to preserve <a href="https://www.bcgsc.ca/glossary#biospecimen">biospecimens</a> for research or diagnostic purposes. Tissues are first fixed in formalin to preserve the structures and proteins present in the tissues, and then embedded in a paraffin wax block which can be sliced thinly and viewed under a microscope.</p> <hr /><p><img alt="FFPE" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/FFPE.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="frameshift-mutation"> <h2 class="section__title" data-expand="field--field_text">Frameshift mutation</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A genetic <a href="https://www.bcgsc.ca/glossary#mutation">mutation</a> caused by either <a href="https://www.bcgsc.ca/glossary#insertion">insertions</a> or <a href="https://www.bcgsc.ca/glossary#deletion">deletions</a> of a number of <a href="https://www.bcgsc.ca/glossary#base-pair">base pairs</a> that is not divisible by three, leading to a shift in the way <a href="https://www.bcgsc.ca/glossary#codon">codons</a> are read during <a href="https://www.bcgsc.ca/glossary#translation">translation</a>.</p> <hr /><p><img alt="Frameshift" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/Frameshift.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--483"> <div class="inner"> <div class="field field--summary"> <h2 id="G">G</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--914"> <h2 class="section__title" data-expand="field--field_text">GC-bias</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A potential artifact of <a href="https://www.bcgsc.ca/glossary#N">next generation sequencing (NGS)</a> that presents as uneven coverage of GC-rich or GC-poor sequencing content. Library amplification by PCR has been found to be a key factor in generating GC-bias.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="gel-electrophoresis"> <h2 class="section__title" data-expand="field--field_text">Gel electrophoresis</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A technique used to separate biological molecules, either <a href="https://www.bcgsc.ca/glossary#nucleic-acid">nucleic acids</a> or <a href="https://www.bcgsc.ca/glossary#protein">proteins</a>, based on their size. Biomolecules are placed in a gel, which acts as a matrix through which the molecules must move upon application of an electrical charge. Smaller molecules will move more rapidly through the matrix while the movement of larger ones will be impaired.</p> <hr /><p><img alt="electrophoresis" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/electrophoresis.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="gene"> <h2 class="section__title" data-expand="field--field_text">Gene</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The basic physical and functional unit of heredity. A gene is a sequence of <a href="https://www.bcgsc.ca/glossary#dna">DNA</a> that codes for a product, either a functional <a href="https://www.bcgsc.ca/glossary#rna">RNA</a> molecule or a <a href="https://www.bcgsc.ca/glossary#protein">protein</a>.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="gene-expression"> <h2 class="section__title" data-expand="field--field_text">Gene expression</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>When a <a href="https://www.bcgsc.ca/glossary#gene">gene</a> is expressed, it is read by the cell through a process called<strong> </strong><a href="https://www.bcgsc.ca/glossary#transcription">transcription</a> to produce an <a href="https://www.bcgsc.ca/glossary#rna">RNA</a> molecule. If the gene codes for a protein, the RNA molecule will be <a href="https://www.bcgsc.ca/glossary#translation">translated</a> to produce a <a href="https://www.bcgsc.ca/glossary#protein">protein</a> product. Because not all gene products are required by every cell in an organism (e.g. brain cells do not require the same gene products as a stomach cell), gene expression can be turned on and off, or the level of gene expression can be regulated, through <a href="https://www.bcgsc.ca/glossary#epigenetic">epigenetic</a> processes.</p> <hr /><p><img alt="gene expression" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/Amino%20acids.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="gene-fusion"> <h2 class="section__title" data-expand="field--field_text">Gene fusion</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Each <a href="https://www.bcgsc.ca/glossary#gene">gene</a> has a beginning and an end. Genetic <a href="https://www.bcgsc.ca/glossary#mutation">mutations</a> can lead to a gene fusion in which two, previously independent genes are joined so that they share the same beginning and end points.</p> <hr /><p><img alt="gene fusion" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/gene%20fusion.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="gene-knockout"> <h2 class="section__title" data-expand="field--field_text">Gene knockout</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>An experimental laboratory technique in which a <a href="https://www.bcgsc.ca/glossary#gene">gene</a> is intentionally removed, or “knocked out”, in order to study the function of that gene.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="gene-therapy"> <h2 class="section__title" data-expand="field--field_text">Gene therapy</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A medical intervention in which a non-functional or <a href="https://www.bcgsc.ca/glossary#mutation">mutated</a> <a href="https://www.bcgsc.ca/glossary#gene">gene</a> is replaced.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="genetic-counselor"> <h2 class="section__title" data-expand="field--field_text">Genetic counselor</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A health professional who provides information and counsel to individuals and families who carry genes responsible for genetic conditions or diseases.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="genetic-testing"> <h2 class="section__title" data-expand="field--field_text">Genetic testing</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A laboratory test to determine if an individual carries specific genetic <a href="https://www.bcgsc.ca/glossary#mutation">mutations</a>, often linked to genetic diseases or <a href="https://www.bcgsc.ca/glossary#cancer">cancers</a>. </p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="genome"> <h2 class="section__title" data-expand="field--field_text">Genome</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The complete set of <a href="https://www.bcgsc.ca/glossary#dna">DNA</a> of an organism. The human genome is comprised of 23 pairs of <a href="https://www.bcgsc.ca/glossary#chromosome">chromosomes</a> and approximately three billion <a href="https://www.bcgsc.ca/glossary#base-pair">base pairs</a>.</p> <hr /><img alt="Human Genome" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/human%20genome.png" class="align-center" /></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="genomics"> <h2 class="section__title" data-expand="field--field_text">Genomics</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A branch of biological science focused on understanding the sequence, structure, function and evolution of the <a href="https://www.bcgsc.ca/glossary#genome">genomes</a> of organisms or populations of organisms. Fields that interface and are often included within the field of genomics include <a href="https://www.bcgsc.ca/glossary#bioinformatics">bioinformatics</a>, <a href="https://www.bcgsc.ca/glossary#epigenetics">epigenetics</a>, <a href="https://www.bcgsc.ca/glossary#epigenomics">epigenomics</a>, <a href="https://www.bcgsc.ca/glossary#metabolomics">metabolomics</a>, <a href="https://www.bcgsc.ca/glossary#proteomics">proteomics</a> and <a href="https://www.bcgsc.ca/glossary#transcriptomics">transcriptomics</a>. </p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="genotype"> <h2 class="section__title" data-expand="field--field_text">Genotype</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The set of <a href="https://www.bcgsc.ca/glossary#allele">alleles</a> present in the <a href="https://www.bcgsc.ca/glossary#genome">genome</a> of an individual organism.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--913"> <h2 class="section__title" data-expand="field--field_text">Genotyping</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The process of determining differences in the genetic make-up of an individual by examining and comparing an individual’s DNA sequence to others at specific positions within the genome.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="germline"> <h2 class="section__title" data-expand="field--field_text">Germline</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A subset of cells in an organism that give rise to reproductive (sperm or egg) cells. <a href="https://www.bcgsc.ca/glossary#mutation">Mutations</a> in the DNA of germline cells are therefore passed on to future generations. Non-germline cells are called somatic cells.</p></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--496"> <div class="inner"> <div class="field field--summary"> <h2 id="H">H</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="heritable"> <h2 class="section__title" data-expand="field--field_text">Heritable</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A genetic trait that can be inherited or passed on to future generations.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="heterogeneous-"> <h2 class="section__title" data-expand="field--field_text">Heterogeneous </h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>An adjective that means composed of different components. In cancer biology, <a href="https://www.bcgsc.ca/glossary#tumour">tumours</a> are described as being a heterogenous mixture of cells—non-cancerous cells and cancerous cells with a variety of different genetic <a href="https://www.bcgsc.ca/glossary#mutation">mutations</a>.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="histone"> <h2 class="section__title" data-expand="field--field_text">Histone</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p><a href="https://www.bcgsc.ca/glossary#protein">Proteins</a> found in the <a href="https://www.bcgsc.ca/glossary#nucleus">nucleus</a> of a cell around which <a href="https://www.bcgsc.ca/glossary#dna">DNA</a> is wound. They function to package, condense and organize DNA so that it fits inside the nucleus, while also helping to regulate <a href="https://www.bcgsc.ca/glossary#gene-expression">gene expression</a> through <a href="https://www.bcgsc.ca/glossary#epigenetics">epigenetic</a> modification.</p> <hr /><p><img alt="DNA packaging" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/dna%20packaging%202.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="hot-spot"> <h2 class="section__title" data-expand="field--field_text">Hot spot</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A region of a <a href="https://www.bcgsc.ca/glossary#genome">genome</a> with a high frequency of genetic <a href="https://www.bcgsc.ca/glossary#mutation">mutations</a>.</p></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--501"> <div class="inner"> <div class="field field--summary"> <h2 id="I">I</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="immune-checkpoint-inhibitors"> <h2 class="section__title" data-expand="field--field_text">Immune checkpoint inhibitors </h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A type of cancer <a href="https://www.bcgsc.ca/glossary#immunotherapy">immunotherapy</a> that targets key regulators of the immune system, helping it recognize and eliminate cancer cells.</p> <p><img alt="Immune checkpoing inhibitors" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/Immune%20checkpoint%20inhibitors.png" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="immunotherapy"> <h2 class="section__title" data-expand="field--field_text">Immunotherapy</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A type of therapy that works by activating or suppressing the immune system.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="in-vitro"> <h2 class="section__title" data-expand="field--field_text">In vitro</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Studies conducted using cells or biological molecules outside of their normal biological setting (e.g., outside of the organism or environment they came from) and instead in a laboratory setting (e.g., in a test tube) are said to be done <em>in vitro</em>.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="in-vivo"> <h2 class="section__title" data-expand="field--field_text">In vivo</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A biological process or reaction occurring within a living organism.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="in-silico"> <h2 class="section__title" data-expand="field--field_text">In silico</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A process that is performed on a computer or in a computer simulation.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="indel"> <h2 class="section__title" data-expand="field--field_text">Indel</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A genetic <a href="https://www.bcgsc.ca/glossary#mutation">mutation</a> that is either an <a href="https://www.bcgsc.ca/glossary#insertion">insertion</a> or a <a href="https://www.bcgsc.ca/glossary#deletion">deletion</a>.</p> <hr /><p><img alt="structural variants" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/structural%20variations.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="inherited"> <h2 class="section__title" data-expand="field--field_text">Inherited</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A trait or <a href="https://www.bcgsc.ca/glossary#gene">gene</a> that is passed down from parents to their offspring.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--974"> <h2 class="section__title" data-expand="field--field_text">Innate immune response</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p class="MsoNormal">The natural response of your body to foreign matter or antigens. Innate, or non-specific, immunity is the first immunological mechanism for fighting against infections. Innate immunity is the defence system that you are born with and involves several layers of protection and barriers that prevent harmful pathogens from entering your body.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="insertion"> <h2 class="section__title" data-expand="field--field_text">Insertion</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A genetic <a href="https://www.bcgsc.ca/glossary#mutation">mutation</a> in which extra <a href="https://www.bcgsc.ca/glossary#baes-pair">base pairs</a> of DNA are added to the <a href="https://www.bcgsc.ca/glossary#genome">genome</a>.</p> <hr /><p><img alt="structural variants" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/structural%20variations.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="inversion"> <h2 class="section__title" data-expand="field--field_text">Inversion</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A type of genetic <a href="https://www.bcgsc.ca/glossary#mutation">mutation</a> that involves rearrangement of a <a href="https://www.bcgsc.ca/glossary#chromosome">chromosome</a> in which a section of DNA is reversed.</p> <hr /><p><img alt="structural variants" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/structural%20variations.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--1055"> <div class="inner"> <div class="field field--summary"> <h2>K</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--1054"> <h2 class="section__title" data-expand="field--field_text">k-mer</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>In bioinformatics, a <em>k</em>-mer refers to the smaller subsequences or substrings that make up a complete sequence. For example, the sequence AGAT is made up of four monomers (A, G, A, T), three 2-mers (AG, GA, AT), two 3-mers (AGA, GAT), and one 4-mer (AGAT). Each of these fixed-size “chunks” are considered <em>k</em>-mers. In other words, <em>k</em>-mers are substrings of length “k” in any given “string” and this string can be made up of any kind of chain including DNA, RNA, or proteins. <em>k</em>-mers are highly useful in bioinformatics analysis because decomposing and analyzing a sequence in smaller chunks (its <em>k</em>-mers) is more efficient than looking at the full sequence as a whole.</p></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--511"> <div class="inner"> <div class="field field--summary"> <h2 id="L">L</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--923"> <h2 class="section__title" data-expand="field--field_text">Long-read sequencing</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>DNA sequencing approach where DNA is broken into long fragments (>10,000 bp), optionally amplified, and then sequenced to produce “reads”. Reads are aligned to form a continuous sequence. Long-read sequencing is an example of next generation sequencing (NGS) and is also referred to as third-generation sequencing.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--1025"> <h2 class="section__title" data-expand="field--field_text">Lymphocyte</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p class="MsoNormal">A type of white blood cell (leukocyte) made in the bone marrow and part of the immune system. There are two main types of lymphocytes: B cells and T cells. B cells produce antibodies that are used to attack invading bacteria, viruses, and toxins.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="lymphoma"> <h2 class="section__title" data-expand="field--field_text">Lymphoma</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A type of <a href="https://www.bcgsc.ca/glossary#cancer">cancer</a> that begins with cells of the immune system, called lymphocytes.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--921"> <h2 class="section__title" data-expand="field--field_text">Lysis</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The break down or disintegration of a cell by rupturing either the cell wall or membrane. Cell lysis can be achieved by a variety of means, including chemical or mechanical methods in the laboratory. The contents of a ruptured cell(s) is referred to as the “lysate”.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--1008"> <h2 class="section__title" data-expand="field--field_text">Lysosomes</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Membrane-bound subcellular organelles containing digestive enzymes used to break down cellular debris (e.g., cell parts, damaged organelles, proteins, invading viruses or bacteria, etc.) to be recycled into nutrients and energy—the so-called “garbage disposal” units of the cell. Lysosomes are a crucial part of the <a href="https://www.bcgsc.ca/glossary#A">autophagy</a> process.</p></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--513"> <div class="inner"> <div class="field field--summary"> <h2 id="M">M</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--971"> <h2 class="section__title" data-expand="field--field_text">Machine learning</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A branch of artificial intelligence, machine learning is a method of data analysis that relies on the use of computer algorithms that can improve themselves automatically through experience and by use of input data. Machine learning is based on the idea that computer systems can learn from data, identify patterns, and make decisions with little human input.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="mrna"> <h2 class="section__title" data-expand="field--field_text">Messenger RNA (mRNA)</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>An <a href="https://www.bcgsc.ca/glossary#rna">RNA</a> molecule, called messenger RNA (mRNA), that is made during <a href="https://www.bcgsc.ca/glossary#transcription">transcription</a> of a <a href="https://www.bcgsc.ca/glossary#gene">gene</a>. The mRNA carries the genetic code out of the <a href="https://www.bcgsc.ca/glossary#nucleus">nucleus</a> and into the cytoplasm where it undergoes <a href="https://www.bcgsc.ca/glossary#translation">translation</a> to produce a <a href="https://www.bcgsc.ca/glossary#protein">protein</a> product.</p> <hr /><p><img alt="central docgma" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/Central%20dogma.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="metabolism"> <h2 class="section__title" data-expand="field--field_text">Metabolism</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>All of the biochemical reactions that occur in an organism. These include reactions that breakdown food molecules and extract their energy, production of cellular components and maintaining existing cells and tissues.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="metabolite"> <h2 class="section__title" data-expand="field--field_text">Metabolite</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A biochemical that is produced or used in the <a href="https://www.bcgsc.ca/glossary#metabolism">metabolism</a> of an organism.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="metabolomics-"> <h2 class="section__title" data-expand="field--field_text">Metabolomics </h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The study of all of the <a href="https://www.bcgsc.ca/glossary#metabolite">metabolites</a> in an organism, cell or tissue.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="metastasis"> <h2 class="section__title" data-expand="field--field_text">Metastasis</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The spread of <a href="https://www.bcgsc.ca/glossary#cancer">cancer</a> cells throughout the body.</p> <hr /><p><img alt="metastasis" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/Tumor%20Cell%20Metastasis.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="metastatic-disease"> <h2 class="section__title" data-expand="field--field_text">Metastatic disease</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A disease state in which a patient’s <a href="https://www.bcgsc.ca/glossary#cancer">cancer</a> has spread (or <a href="https://www.bcgsc.ca/glossary#metastasis">metastasized</a>) to another location in the body.</p> <hr /><p><img alt="metastasis" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/Tumor%20Cell%20Metastasis.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--918"> <h2 class="section__title" data-expand="field--field_text">Metatranscriptomics</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A branch of science that specifically studies how the microbiome responds to the environment by assessing gene expression</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="microorganism"> <h2 class="section__title" data-expand="field--field_text">Microorganism</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Microscopic organisms including <a href="https://www.bcgsc.ca/glossary#bacteria">bacteria</a> and <a href="https://www.bcgsc.ca/glossary#virus">viruses</a>.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="microrna"> <h2 class="section__title" data-expand="field--field_text">microRNA</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A microRNA is a small <a href="https://www.bcgsc.ca/glossary#rna">RNA</a> molecule that functions in RNA silencing and post-transcriptional regulation of <a href="https://www.bcgsc.ca/glossary#gene-expression">gene expression</a>. Micro RNAs function by forming <a href="https://www.bcgsc.ca/glossary#base-pair">base pairs</a> with <a href="https://www.bcgsc.ca/glossary#complementary">complementary</a> sequences within <a href="https://www.bcgsc.ca/glossary#mrna">mRNA</a> molecules.</p> <hr /><p><img alt="microRNA" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/microRNA.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="mitochondria"> <h2 class="section__title" data-expand="field--field_text">Mitochondria</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A mitochondrion (plural mitochondria) is a membrane-bound <a href="https://www.bcgsc.ca/glossary#organelle">organelle</a> found in <a href="https://www.bcgsc.ca/glossary#eukaryote">eukaryotic</a> cells. Mitochondria are responsible for extracting energy stored in biomolecules through a process called cellular respiration. The extracted energy is stored in a molecule called ATP which can be used by the cell. Mitochondria contain mitochondrial DNA that encodes for <a href="https://www.bcgsc.ca/glossary#rrna">rRNA</a>, <a href="https://www.bcgsc.ca/glossary#trna">tRNA</a> and <a href="https://www.bcgsc.ca/glossary#protein">proteins</a>.</p> <hr /><p><img alt="Mitochondria" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/Mitochondria.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--970"> <h2 class="section__title" data-expand="field--field_text">Model organism</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p class="MsoNormal">Non-human species or animals that are used in the laboratory to help scientists understand biological processes. The expectation is that discoveries made in the model organism can provide insight into the workings of other, more complex organisms. Examples of common model organisms include bacteria (<em>Escherichia coli</em>), yeast (<em>Saccharomyces cerevisiae</em>), and mice (<em>Mus musculus</em>).</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="mutation"> <h2 class="section__title" data-expand="field--field_text">Mutation</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A change in the DNA sequence or a cell or organism.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--982"> <h2 class="section__title" data-expand="field--field_text">Myeloproliferation</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The observed phenomenon where the bone marrow produces excessive amounts of normal red blood cells, white blood cells, and platelets.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--981"> <h2 class="section__title" data-expand="field--field_text">Myelosuppression</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The observed phenomenon where the bone marrow is unable to make enough blood cells. Also referred to as bone marrow suppression, as the bone marrow activity is essentially decreased or “suppressed”.</p></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--522"> <div class="inner"> <div class="field field--summary"> <h2 id="N">N</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--916"> <h2 class="section__title" data-expand="field--field_text">Next generation sequencing (NGS)</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p class="MsoNormal">DNA sequencing technologies that allow one to sequence multiple smaller fragments in parallel. Examples of NGS include short- and long-read sequencing.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="nucleic-acid"> <h2 class="section__title" data-expand="field--field_text">Nucleic acid</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A long biomolecule made up of a chain of <a href="https://www.bcgsc.ca/glossary#nucleotides">nucleotides</a>. DNA and RNA are nucleic acids.</p> <hr /><p><img alt="nucleic acid" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/nucleic%20acid.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="nucleotide"> <h2 class="section__title" data-expand="field--field_text">Nucleotide</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The building blocks of <a href="https://www.bcgsc.ca/glossary#nucleic-acid">nucleic acids</a> (e.g., DNA and RNA). Nucleotides are composed of three types of molecules: a sugar, a phosphate and a base. The base differs between nucleotides and are called Adenine (A), Thymine (T), Cytosine (C), Guanine (G) and Uracil (U).</p> <hr /><p><img alt="nucleotides" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/nucleic%20acid.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="nucleus"> <h2 class="section__title" data-expand="field--field_text">Nucleus</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A membrane-bound compartment in a cell containing the genetic material.</p> <hr /><img alt="nucleus" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/nucleus.png" class="align-center" /></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--526"> <div class="inner"> <div class="field field--summary"> <h2 id="O">O</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="oncogene"> <h2 class="section__title" data-expand="field--field_text">Oncogene</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A <a href="https://www.bcgsc.ca/glossary#gene">gene</a> that, when <a href="https://www.bcgsc.ca/glossary#mutation">mutated</a>, has the potential to cause <a href="https://www.bcgsc.ca/glossary#cancer">cancer</a>.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="organelle"> <h2 class="section__title" data-expand="field--field_text">Organelle</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A specialized subunit or compartment, found within a <a href="https://www.bcgsc.ca/glossary#eukaryote">eukaryotic</a> cell, that carries out a specific function.</p> <hr /><p><img alt="organelle" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/organelle.png" /></p></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--528"> <div class="inner"> <div class="field field--summary"> <h2 id="P">P</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--1007"> <h2 class="section__title" data-expand="field--field_text">Prediction Analysis of Microarray 50 (PAM50)</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p class="MsoNormal">PAM50 is a list of 50 genes that are assessed in biopsied breast cancer tumour samples. By assessing the expression (i.e., RNA levels) of these 50 genes, breast cancer can be classified as one of five intrinsic subtypes: Luminal A, Luminal B, human epidermal growth factor receptor 2 (HER2)-enriched, Basal-like, and Normal-like. Each of the five molecular subtypes vary by their biological properties and prognoses.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="pathogen"> <h2 class="section__title" data-expand="field--field_text">Pathogen</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A biological organism, usually a <a href="https://www.bcgsc.ca/glossary#bacteria">bacterium</a> or a <a href="https://www.bcgsc.ca/glossary#virus">virus</a>, capable of causing disease.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--997"> <h2 class="section__title" data-expand="field--field_text">Patient-derived explants (PDEs)</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Patient-derived explants (PDEs) are <em>ex vivo</em> cultures of freshly-resected human tumours—including tumour cells and cells from the tumour microenvironment—that preserve histological features of the original, parental tumour.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="penetrance"> <h2 class="section__title" data-expand="field--field_text">Penetrance</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The proportion of individuals carrying a particular genetic variant who display a particular trait. In cancer genetics, penetrance refers to the likelihood that a disease or condition will occur when a particular genetic variant is present.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--972"> <h2 class="section__title" data-expand="field--field_text">Peptide</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A short string of amino acids (between 2 to 50 amino acids) linked together by peptide bonds. Peptides are essentially short, biological polymers that, when longer (> 50 amino acids) and properly folded, make up proteins.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="phenotype"> <h2 class="section__title" data-expand="field--field_text">Phenotype</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The observable characteristics of an individual that result from their <a href="https://www.bcgsc.ca/glossary#genotype">genotype</a>.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="point-mutation"> <h2 class="section__title" data-expand="field--field_text">Point mutation</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A genetic mutation in which a single <a href="https://www.bcgsc.ca/glossary#nucleotide">nucleotide</a> is substituted for another.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="poly-a-tail"> <h2 class="section__title" data-expand="field--field_text">Poly-A tail</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>In eukaryotes, the poly-A tail refers to a stretch of adenine nucleic acid bases added to the 3’ end of RNA transcripts destined for translation.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="pcr"> <h2 class="section__title" data-expand="field--field_text">Polymerase Chain Reaction (PCR) </h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A laboratory procedure that is used to amplify, or replicate, a specific region of DNA to produce many copies.</p> <hr /><p><img alt="PCR" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/Polymerase%20Chain%20Reaction%20%28PCR%29.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="polymorphism"> <h2 class="section__title" data-expand="field--field_text">Polymorphism</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The presence of genetic variation for a particular <a href="https://www.bcgsc.ca/glossary#gene">gene</a> in a population.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="prokaryote"> <h2 class="section__title" data-expand="field--field_text">Prokaryote</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A single-celled organisms which lacks a membrane-bound <a href="https://www.bcgsc.ca/glossary#nucleus">nucleus</a> or any other membrane-bound <a href="https://www.bcgsc.ca/glossary#organelle">organelle</a>.</p> <hr /><p><img alt="prokaryote" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/bacteria.png" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="promoter"> <h2 class="section__title" data-expand="field--field_text">Promoter</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A region of DNA located just before the beginning of a <a href="https://www.bcgsc.ca/glossary#gene">gene</a>. The promoter contains the DNA sequence that is required for the gene to be read (<a href="https://www.bcgsc.ca/glossary#transcription">transcribed</a>) and can be modified through <a href="https://www.bcgsc.ca/glossary#epigenetics">epigenetics</a> to regulate <a href="https://www.bcgsc.ca/glossary#gene-expression">gene expression</a>. <a href="https://www.bcgsc.ca/glossary#mutation">Mutations</a> in the promoter may cause dysregulation in gene expression and may lead to disease.</p> <hr /><p><img alt="promoter" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/DNA%20methylation.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="protein"> <h2 class="section__title" data-expand="field--field_text">Protein</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A large biomolecule made up of building blocks called <a href="https://www.bcgsc.ca/glossary#amino-acid">amino acids</a>. Proteins can be structural (e.g., proteins that hold cells in a tissue together) or function (e.g., <a href="https://www.bcgsc.ca/glossary#enzyme">enzymes</a>).</p> <hr /><p><img alt="protein" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/Amino%20acids.jpeg" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="proteomics"> <h2 class="section__title" data-expand="field--field_text">Proteomics</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A field of science which studies all of the <a href="https://www.bcgsc.ca/glossary#protein">proteins</a> in a cell, tissue or organism. Proteomics can be used to determine which <a href="https://www.bcgsc.ca/glossary#gene">genes</a> are <a href="https://www.bcgsc.ca/glossary#gene-expression">expressed</a> and when.</p></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--538"> <div class="inner"> <div class="field field--summary"> <h2 id="R">R</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="radiation-therapy"> <h2 class="section__title" data-expand="field--field_text">Radiation therapy</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A type of <a href="https://www.bcgsc.ca/glossary#cancer">cancer</a> therapy that uses beams of intense energy (ionizing radiation) to eliminate cancer cells.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="rna"> <h2 class="section__title" data-expand="field--field_text">Ribonucleic acid (RNA)</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>RNA is a <a href="https://www.bcgsc.ca/glossary#nucleic-acid">nucleic acid</a>. Similar to DNA, it is composed of a long strand of <a href="https://www.bcgsc.ca/glossary#nucleotide">nucleotides</a>. RNA differs from DNA in the chemical structure of the nucleotide building blocks (DNA is made up of deoxyribonucleotides while RNA is made up of ribonucleotides). It also differs in function. While DNA carries the genetic information of the cell, RNA has various functions including production of a protein product through <a href="https://www.bcgsc.ca/glossary#transcription">transcription</a> and <a href="https://www.bcgsc.ca/glossary#translation">translation</a> (<a href="https://www.bcgsc.ca/glossary#mrna">mRNA</a>), as a structural and functional component of <a href="https://www.bcgsc.ca/glossary#ribosome">ribosomes</a> (<a href="https://www.bcgsc.ca/glossary#rrna">rRNA</a>) and a functional role in <a href="https://www.bcgsc.ca/glossary#translation">translation</a> (<a href="https://www.bcgsc.ca/glossary#trna">tRNA</a>). </p> <hr /><p><img alt="RNA" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/RNA.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="rrna"> <h2 class="section__title" data-expand="field--field_text">Ribosomal RNA (rRNA)</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>RNA molecules that, along with ribosomal proteins, make up the structure and function of the <a href="https://www.bcgsc.ca/glossary#ribosome">ribosome</a>.</p> <hr /><p><img alt="RNA" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/RNA.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="ribosome"> <h2 class="section__title" data-expand="field--field_text">Ribosome</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A complex of proteins and <a href="https://www.bcgsc.ca/glossary#rrna">rRNA</a> that reads the <a href="https://www.bcgsc.ca/glossary#codon">codons</a> of the <a href="https://www.bcgsc.ca/glossary#mrna">mRNA</a> and converts them into a chain of <a href="https://www.bcgsc.ca/glossary#amino-acid">amino acids</a> to produce a <a href="https://www.bcgsc.ca/glossary#protein">protein</a> product in a process called <a href="https://www.bcgsc.ca/glossary#translation">translation</a>.</p> <hr /><p><img alt="ribosome" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/Ribosome.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="rna-sequencing"> <h2 class="section__title" data-expand="field--field_text">RNA sequencing</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The process of determining the order of <a href="https://www.bcgsc.ca/glossary#nucleotide">nucleotides</a> in <a href="https://www.bcgsc.ca/glossary#rna">RNA</a>. It can be used to identify genetic <a href="https://www.bcgsc.ca/glossary#mutation">mutations</a> and changes in <a href="https://www.bcgsc.ca/glossary#gene-expression">gene expression</a>.</p> <hr /><p><img alt="RNA sequencing" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/RNA%20sequencing.png" class="align-center" /></p></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--544"> <div class="inner"> <div class="field field--summary"> <h2 id="S">S</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--1010"> <h2 class="section__title" data-expand="field--field_text">Secretome</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The complete set of proteins secreted by cells into the extracellular space.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--922"> <h2 class="section__title" data-expand="field--field_text">Short-read sequencing</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>DNA sequencing approach where DNA is broken into short fragments (75-400 bp) that are amplified then sequenced to produce 'reads'. Reads are then aligned to form a continuous sequence. Short-read sequencing is an example of next generation sequencing (NGS) and is also referred to as second-generation sequencing.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--912"> <h2 class="section__title" data-expand="field--field_text">Short Tandem Repeat (STR)</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A repeating pattern of adjacent DNA segments 2 to 6 base pairs in length. Also referred to as a microsatellite.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="snp"> <h2 class="section__title" data-expand="field--field_text">Single Nucleotide Polymorphism (SNP) </h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A variation in a single <a href="https://www.bcgsc.ca/glossary#base-pair">base pair</a> within a DNA sequence. SNPs (pronounced “snips”) can be used to determine an individual’s susceptibility to disease or to predict responses to drug treatments.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="single-cell-rna-sequencing-scrna-seq"> <h2 class="section__title" data-expand="field--field_text">Single-cell RNA sequencing (scRNA-seq)</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p class="MsoNormal">A powerful, high-resolution RNA sequencing technique that can provide the transcriptional or expression profiles of thousands of individual cells.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="somatic-mutation"> <h2 class="section__title" data-expand="field--field_text">Somatic mutation</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A genetic <a href="https://www.bcgsc.ca/glossary#mutation">mutation</a> that occurs in somatic cells—those that are not <a href="https://www.bcgsc.ca/glossary#germline">germline</a> cells. Somatic mutations cannot be passed on to future generations as they do not occur in sperm and egg cells.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--1057"> <h2 class="section__title" data-expand="field--field_text">Somatic variant calling</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The bioinformatics-based approach used to detect or “call” the true, biologically-produced somatic mutations observed in <a href="https://www.bcgsc.ca/glossary#N">next generation sequencing</a> data.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="stem-cell"> <h2 class="section__title" data-expand="field--field_text">Stem cell</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Cells in the body which can divide and give rise to different populations of cells with specialized functions.</p> <hr /><img alt="stem cells" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/Stem%20Cell%20Differentiation%20from%20Bone%20Marrow.png" class="align-center" /></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--990"> <h2 class="section__title" data-expand="field--field_text">Substrate</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>An enzyme substrate is the material upon which the enzyme acts to catalyze a chemical reaction.</p></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--548"> <div class="inner"> <div class="field field--summary"> <h2 id="T">T</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--978"> <h2 class="section__title" data-expand="field--field_text">T cell</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A type of white blood cell (or leukocyte) that identifies and responds to foreign substances (antigens) as part of the body’s immune system. </p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--992"> <h2 class="section__title" data-expand="field--field_text">Thermal Proteome Profiling (TPP)</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Thermal proteome profiling (TPP) is a mass spectrometry-based proteomics technique that relies on the principle that all proteins denature and become insoluble when subjected to heat. TPP exploits the fact that ligand-bound proteins (e.g., proteins bound to a small molecule compound/drug, nucleic acids, or to other proteins) undergo a change in their thermal stability and can be differentiated from the unbound protein.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="transcript"> <h2 class="section__title" data-expand="field--field_text">Transcript</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>An <a href="https://www.bcgsc.ca/glossary#rna">RNA</a> molecule that is produced by <a href="https://www.bcgsc.ca/glossary#transcription">transcription</a>.</p> <hr /><p><img alt="central dogma" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/Central%20dogma%281%29.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="transcript-fusion"> <h2 class="section__title" data-expand="field--field_text">Transcript fusion</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Every <a href="https://www.bcgsc.ca/glossary#R" target="_blank" title="RNA">RNA</a><a href="https://bcgsc.ca/glossary#T" target="_blank" title="transcript"> transcript </a>has a 5' end and a 3' end. Transcript fusion is the combination of two RNA transcripts. This can happen through structural rearrangements, <a href="https://www.bcgsc.ca/glossary#M" target="_blank" title="mutation">mutations</a> or splicing changes. </p> <p><img alt="Transcription Fusion" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/transcription%20fusion.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="transcript-isoforms"> <h2 class="section__title" data-expand="field--field_text">Transcript isoforms</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Also referred to as “gene isoforms”, transcript isoforms are variations of the RNA species transcribed from the same gene/locus. Transcript isoforms can arise due to <a href="https://www.bcgsc.ca/glossary#A">alternative transcriptional initiation</a>, <a href="https://www.bcgsc.ca/glossary#A">alternative splicing</a>, and/or <a href="https://www.bcgsc.ca/glossary#A">alternative cleavage</a>.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="transcript-isoform-co-expression"> <h2 class="section__title" data-expand="field--field_text">Transcript isoform co-expression</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Referring to instances where the expression of two transcript isoforms is correlated directly with one another (e.g., where both transcript isoforms are either highly or lowly expressed across cell categories).</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="transcript-isoform-switching"> <h2 class="section__title" data-expand="field--field_text">Transcript isoform switching</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Isoform switching refers to instances where two isoforms are negatively correlated with one another (e.g. the mutual exclusivity of isoform expression in two or more cell categories; when isoform A expression is high, isoform B expression is low, and vice versa).</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="transcription"> <h2 class="section__title" data-expand="field--field_text">Transcription</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A biological process in which <a href="https://www.bcgsc.ca/glossary#dna">DNA</a> is read by an <a href="https://www.bcgsc.ca/glossary#enzyme">enzyme</a> called RNA polymerase, which uses DNA as a template to produce a <a href="https://www.bcgsc.ca/glossary#complimentary">complimentary</a> <a href="https://www.bcgsc.ca/glossary#rna">RNA</a> molecule.</p> <hr /><p><img alt="central dogma" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/Central%20dogma%281%29.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="transcriptome"> <h2 class="section__title" data-expand="field--field_text">Transcriptome </h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Collectively, the set of all <a href="https://www.bcgsc.ca/glossary#rna">RNA</a> <a href="https://www.bcgsc.ca/glossary#transcript">transcripts</a>, including coding and non-coding, in an individual or a population of cells. Can be used to refer to the global gene expression, also known as RNA or transcript levels, produced in a particular cell or tissue type, or expressed by an organism.</p> <p><img alt="The Transcriptome" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Transcriptome.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="transcriptomics"> <h2 class="section__title" data-expand="field--field_text">Transcriptomics</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>The study of the complete set of RNA <a href="https://www.bcgsc.ca/glossary#transcript">transcripts</a> in a cell, tissue, organism, or sample. Transcriptomics can be used to record all of the changes in <a href="https://www.bcgsc.ca/glossary#gene-expression">gene expression</a> at a specific moment. Transcriptomics is usually done using a technology called <a href="https://www.bcgsc.ca/glossary#rna-sequencing">RNA sequencing</a>.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="trna"> <h2 class="section__title" data-expand="field--field_text">Transfer RNA (tRNA)</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p><a href="https://www.bcgsc.ca/glossary#rna">RNA</a> molecules that play a functional role in <a href="https://www.bcgsc.ca/glossary#translation">translation</a>. They bring the <a href="https://www.bcgsc.ca/glossary#amino-acid">amino acid</a> building blocks to the <a href="https://www.bcgsc.ca/glossary#ribosome">ribosome</a> and transfers it to the growing protein chain.</p> <hr /><p><img alt="tRNA" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/RNA.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="translation"> <h2 class="section__title" data-expand="field--field_text">Translation</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A biological process in which the <a href="https://www.bcgsc.ca/glossary#mrna">mRNA</a> is read by the <a href="https://www.bcgsc.ca/glossary#ribosome">ribosome</a> in groups of three <a href="https://www.bcgsc.ca/glossary#nucleotide">nucleotides</a> at a time (<a href="https://www.bcgsc.ca/glossary#codon">codons</a>). The ribosome strings together <a href="https://www.bcgsc.ca/glossary#amino-acid">amino acids</a> in the sequence specified by the mRNA code to produce a <a href="https://www.bcgsc.ca/glossary#protein">protein</a> product.</p> <hr /><p><img alt="translation" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/Glossary/Central%20dogma%281%29.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--999"> <h2 class="section__title" data-expand="field--field_text">Transposon</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A transposon is a DNA sequence that's transcribed into RNA and reverse-transcribed into DNA, and then inserted elsewhere in the genome. Also referred to as a Transposable Element (TE) or jumping gene. </p> <p><img alt="transposon" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/pictures/transposon.png" class="align-center" /></p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="tumour"> <h2 class="section__title" data-expand="field--field_text">Tumour</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>An abnormal growth resulting form the proliferation of cells. A tumour may be benign, meaning it is self-limiting and non-invasive, or it may be malignant, meaning it is cancerous. <a href="https://www.bcgsc.ca/glossary#cancer">Cancerous</a> tumours proliferate indefinitely, are invasive and can spread through <a href="https://www.bcgsc.ca/glossary#metastasis">metastasis</a>.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--996"> <h2 class="section__title" data-expand="field--field_text">Tumour heterogeneity</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Tumour heterogeneity refers to the genetic and phenotypic differences observed in the cells that make up tumour tissue. Heterogeneity means that not every cell in the tumour is genetically or phenotypically identical to one another (intra-tumour heterogeneity) and that every tumour is not identical compared to tumours of the same cancer (inter-tumour heterogeneity).</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="tumour-suppressor-gene"> <h2 class="section__title" data-expand="field--field_text">Tumour suppressor gene</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>A type of gene that regulates cell division. When <a href="https://www.bcgsc.ca/glossary#mutation">mutated</a>, uncontrolled cell proliferation and cancer may occur. </p></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--994"> <div class="inner"> <div class="field field--summary"> <h2>U</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--995"> <h2 class="section__title" data-expand="field--field_text">Uncompetitive inhibition</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Uncompetitive inhibition is a type of enzyme inhibition that occurs when an inhibitor (e.g., small molecule compound/drug, other protein, etc.) binds only to the complex that is formed between an enzyme and its substrate, and prevents the enzyme-substrate complex from functioning properly.</p></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--556"> <div class="inner"> <div class="field field--summary"> <h2 id="V">V</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="virus"> <h2 class="section__title" data-expand="field--field_text">Virus</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>An infectious agent that is unable to replicate independent of a host cell.</p></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--558"> <div class="inner"> <div class="field field--summary"> <h2 id="W">W</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="whole-exome-sequencing"> <h2 class="section__title" data-expand="field--field_text">Whole exome sequencing</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>Exome sequencing, also known as whole exome sequencing (WES) is a <a href="https://www.bcgsc.ca/glossary#dna-sequencing">DNA sequencing</a> technique focused on the portion of the <a href="https://www.bcgsc.ca/glossary#genome">genome</a> that codes for <a href="https://www.bcgsc.ca/glossary#protein">proteins</a>, known as the exome. The exome comprises only 1% of the genome.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="whole-genome-sequencing"> <h2 class="section__title" data-expand="field--field_text">Whole genome sequencing</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p><a href="https://www.bcgsc.ca/glossary#dna-sequencing">DNA sequencing</a> that aims to sequence all of the <a href="https://www.bcgsc.ca/glossary#dna">bases</a> of an individual’s <a href="https://www.bcgsc.ca/glossary#genome">genome</a>, including the <a href="https://www.bcgsc.ca/glossary#whole-exome-sequencing">exome</a> and non-coding regions.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="paragraph--917"> <h2 class="section__title" data-expand="field--field_text">Whole genome shotgun</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p class="MsoNormal">A DNA sequencing approach where multiple copies of a <a href="https://bcgsc.ca/glossary#G">genome</a> are randomly fragmented (similar to how a shotgun shell randomly breaks apart into smaller pieces after being fired), sequenced, and then the fragments are reassembled to form a contiguous DNA sequence by using the overlapping regions of the DNA fragments.</p></div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="wild-type"> <h2 class="section__title" data-expand="field--field_text">Wild-type</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p class="MsoNormal">The scientific term used when referencing the normal, natural, or unmodified state. In some cases, can refer to the typical form as it occurs in nature.</p></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--561"> <div class="inner"> <div class="field field--summary"> <h2 id="X">X</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="x-chromosome"> <h2 class="section__title" data-expand="field--field_text">X chromosome</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>One of the two sex <a href="https://www.bcgsc.ca/glossary#chromosome">chromosomes</a> in the human <a href="https://www.bcgsc.ca/glossary#genome">genome</a>. Women generally carry two X chromosomes whereas men carry one X chromosome and one <a href="https://www.bcgsc.ca/glossary#y-chromosome">Y chromosome</a>.</p> <hr /><p><img alt="Human Genome" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/human%20genome.png" class="align-center" /></p></div> </section> <section class="layout layout__callout layout__parent__node paragraph paragraph--type--callout paragraph--view-mode--default" id="paragraph--563"> <div class="inner"> <div class="field field--summary"> <h2 id="Y">Y</h2> </div> </div> </section> <section class="layout layout__expanding layout__parent__node has-expanding-text paragraph paragraph--type--expanding paragraph--view-mode--default" id="y-chromosome"> <h2 class="section__title" data-expand="field--field_text">Y chromosome</h2><button class="icon" data-expand></button> <div class="field field--field_text"> <p>One of the two sex <a href="https://www.bcgsc.ca/glossary#chromosome">chromosomes</a> in the human <a href="https://www.bcgsc.ca/glossary#genome">genome</a>. Women generally do not carry a Y chromosome whereas men carry one <a href="https://www.bcgsc.ca/glossary#x-chromosome">X chromosome</a> and one Y chromosome.</p> <hr /><p><img alt="Human Genome" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/human%20genome.png" class="align-center" /></p></div> </section> </section> </div> </section> </div> <a class="top" href="#main-content">Back to top</a> </main> <footer class="page" role="contentinfo"> <section class="region region__footer"> <div class="region__footer--inner region--inner"> <section id="block-phsalogo" class="block block--block-content48cb2c10-5268-42da-903c-fe5116528b6f block-phsalogo"> <div class="field field--body"><p><img alt="PHSA Logo" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/phsa-transparent.png" /></p></div> </section> <section id="block-bccancerlogo" class="block block--block-content8696b82d-d847-4228-8127-4bdb6202840b block-bccancerlogo"> <div class="field field--body"><p><img alt="BC Cancer Logo" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/ResearchInstitute_RGB_transparent.png" /></p></div> </section> <section id="block-gsccirclelogo" class="block block--block-contentaec49dbb-2702-473c-8a21-74114fe8202c block-gsccirclelogo"> <div class="field field--body"><p><img alt="GSC Logo" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/gsc-logo.v02_logo.png" /></p> </div> </section> <section id="block-ubclogo" class="block block--block-content0fab82a3-182a-4f32-ab27-68c8418c9c18 block-ubclogo"> <div class="field field--body"><p><img alt="UBC Logo" data-entity-type="" data-entity-uuid="" src="https://www.bcgsc.ca/sites/default/files/UBC-logo-narrow-transparent.png" /></p></div> </section> </div> </section> </footer> <section class="region region__copyright"> <div class="region__copyright--inner region--inner"> <nav role="navigation" aria-labelledby="block-bccrc-footer-menu" id="block-bccrc-footer"> <h2 class="visually-hidden" id="block-bccrc-footer-menu">Footer menu</h2> <ul class="menu"> <li class="menu-item"> <a href="/data-release-policy-open-access" title="Data Release Policy: Open Access" data-drupal-link-system-path="node/1743">Data Release Policy</a> </li> <li class="menu-item"> <a href="/privacy-policy" data-drupal-link-system-path="node/46">Privacy Policy</a> </li> <li>Copyright © BC Cancer. 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