Whole Exome Sequencing | GENEWIZ from Azenta

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Whole Genome Sequencing</a></li><li><a href='/en/Public/Services/Clinical-Services/Regulatory' style='color:#585F69;font-size:14px'>GLP-Compliant Overview</a></li><li><a href='/en/Public/Services/Clinical-Services/GLP-compliant-Confirmatory-Sequencing' style='color:#585F69;font-size:14px'>GLP Confirmatory Sequencing</a></li><li><a href='/en/Public/Services/Clinical-Services/GLP-compliant-SNP-Mutation-Analysis' style='color:#585F69;font-size:14px'>GLP SNP Mutation Analysis</a></li><li><a href='/en/Public/Services/Clinical-Services/GLP-compliant-Plasmid-Prep' style='color:#585F69;font-size:14px'>GLP Plasmid Prep</a></li><li><a href='/en/Public/Services/Clinical-Services/Nucleic-Acid-Extraction' style='color:#585F69;font-size:14px'>GLP Nucleic Acid Extraction</a></li><li><a href='/en/Public/Services/Clinical-Services/Biofluid-Processing-Overview' style='color:#585F69;font-size:14px'>Biofluid Processing</a></li><li><a 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Mendelian diseases, and complex human disorders. This method targets protein-coding regions responsible for disease-related variants, providing a more cost-effective approach than whole genome sequencing (WGS).</p> <p>We offer customizable human and mouse WES solutions at the research-use only (RUO) level and <a href="/Public/Services/Clinical-Services/CLIA-Whole-Exome-Sequencing">clinical whole exome sequencing</a> solutions in our CLIA-certified and CAP-accredited lab.</p> <p> </p> <a rel="noopener noreferrer" rel="noopener noreferrer" href="https://web.genewiz.com/ngs-inquiry?utm_source=exome-seq" target="_blank"><button>Request Quote</button></a> </div> <div class="ngs-content-box" id="ngs-content-box-right"> <a rel="noopener noreferrer" rel="noopener noreferrer" href="https://hubs.ly/Q02FKwc60" target="_blank"><img alt="" src="/-/media/11038-D_PEZ-DirectColonySeq_WebBanRight.ashx?la=en&hash=9E030C709843447C76717D11FCC9D4A59384D0CC" /></a> </div> </div> </div> </div> <div class="headline-center Rich-Text-Edit-Area"> <style type="text/css"> .question { width: 1170px; display: inline-block; } .question p { width: 90%; text-align: left; } .question ul { width: 90%; text-align: left; } @media screen and (max-width: 1170px) { .question { width: auto; } } </style> <div class="question"> <h2>How does whole exome sequencing work?</h2> <p>Whole exome sequencing works by using capture probes (synthesized oligonucleotides) or baits designed to specifically hybridize the exons (coding portions of genes), rather than enriching all the genomic DNA. Library preparation comes next, wherein sequencing adapters are added to the enriched protein-coding DNA fragments and sequenced via high-throughput sequencing, often next generation sequencing (NGS).</p> <p> </p> <h2>What is an exome sequencing sequence?</h2> <p>An exome sequencing sequence is the protein-coding region of the genome, known as the exome, that is sequenced via next generation sequencing (NGS). The resulting sequencing data is then used to identify genetic variants and influences on disease.</p> </div> </div> <div class="headline-center Rich-Text-Edit-Area"> <style type="text/css"> .epi-service-options { width: 1170px; margin: 0 auto; text-align: center; margin-top: 60px; } .service-container { width: 100%; text-align: center; display: flex; justify-content: space-around; flex-wrap: wrap; } .epi-service { width: 49%; text-align: center; /*display: inline-block;*/ /*vertical-align: top;*/ padding: 35px 0 35px 0; margin: 4px; position: relative; } .epi-service img { height: 150px; padding: 20px 0; } .epi-service h3 { margin: 0; } .epi-service p { width: 90%; margin: 0 auto; /*margin-bottom: 20px;*/ line-height: 20px; } .epi-service a { color: #826ec3; } #epi-service-1 { background: #f0f0f0; } #epi-service-1 span { display: none; } #epi-service-2 { background: #f0f0f0; } .epi-service-btn { background: #826ec3; border: 2px solid #826ec3; padding: 10px 20px; color: #ffffff; -webkit-transition: background-color 0.2s ease-in-out; -moz-transition: background-color 0.2s ease-in-out; -o-transition: background-color 0.2s ease-in-out; transition: background-color 0.2s ease-in-out; margin-top: 20px; } .epi-service-btn:hover { background: #6959a1; border: 2px solid #6959a1; color: #fff; padding: 10px 20px; } @media only screen and (max-width: 1170px) { .epi-service-options { width: 90%; } .epi-service-btn { font-size: 10px; } } @media only screen and (max-width: 905px) { .epi-service { width: 80%; } } @media only screen and (max-width: 768px) { .service-container { display: block; } .epi-service { width: 100%; margin: 10px 0; padding: 10px 0 20px 0; } .epi-service-btn { position: static; left: 0; right: 0; margin: 0; } .epi-service p { margin-bottom: 20px; } } </style> <div class="epi-service-options" id="epigenomics-service-options"> <h2 style="text-transform: uppercase;"> Exome Sequencing Service Options </h2> <div class="service-container"> <div class="epi-service" id="epi-service-1"> <div class="epi-service-content"> <h3> Exome Sequencing for Research Use Only </h3> <img alt="" src="/-/media/Images/Services/NGS/Epigenomics/2019/Reserach_Only"> <p> Our research-grade service provides customizable solutions for human and mouse exome sequencing. <a rel="noopener noreferrer" href="https://web.genewiz.com/ngs-packages" target="_blank">Flexible service packages</a> are available to meet your budget and deadline requirements. </p> </div> <a href="https://web.genewiz.com/ngs-clims4" target="_blank"> <button class="epi-service-btn"> Request Quote </button> </a> </div> <div class="epi-service" id="epi-service-2"> <div class="epi-service-content"> <h3> Clinical Exome Sequencing </h3> <img alt="" src="/-/media/Images/Services/NGS/Epigenomics/2019/Clinical_Exome_Sequencing"> <p> Our <a rel="noopener noreferrer" href="https://www.genewiz.com/en/Public/Services/Clinical-Services/CLIA-Whole-Exome-Sequencing" target="_blank">clinical workflows</a> are performed in a CLIA-certified lab by CLIA-trained personnel on CLIA-qualified equipment. Receive the highest level of regulatory compliance with our CLIA-validated clinical exome sequencing assay. </p> </div> <a href="https://web.genewiz.com/clia-inquiry" target="_blank"> <button class="epi-service-btn"> Request Consultation </button> </a> </div> </div> </div> <p>Verify your final targets of interest using Azenta’s <a href="https://web.genewiz.com/confirm-your-ngs-data ">confirmatory sequencing</a> service.</p> <p> </p> </div> <script language="javascript" type="text/javascript"> jQuery(document).ready(function ($) { $(".SingleIcon").find("img").addClass("img-responsive center-block"); }); </script> <div class="process-v1 icon-nav Component-BackGround-Default margin-top-0 margin-bottom-30 padding-top-10 padding-bottom-10"> <div class="container"> <div class="headline-center"> <h2>Exome Sequencing Coverage For Any Application</h2> <p></p> </div> <ul class="list-unstyled row "> <li class='col-sm-4'> <div class='SingleIcon headline-center Component-BackGround-Defaultmargin-top-0 margin-bottom-30 padding-top-10 padding-bottom-10'> <div class="row"> </div> <div class="row"> <style> .SingleIcon h3 { height: auto; margin: none; } @media (min-width: 768px) { .SingleIcon h3 { margin: none; } .SingleIcon { height: 180px; } } .SingleIcon { border: 2px solid #f0f1f1; } </style> <h3>50x coverage</h3> <p>(~5 Gb output)</p> </div> <div class="row"> Germline variant discovery<br>Uncovering disease-associated genotypes </div> </div> </li>  <li class='col-sm-4'> <div class='SingleIcon headline-center Component-BackGround-Defaultmargin-top-0 margin-bottom-30 padding-top-10 padding-bottom-10'> <div class="row"> </div> <div class="row"> <h3>100x coverage</h3> <p>(~10 Gb output)</p> </div> <div class="row"> Somatic mutation discovery<br>Tumor/normal sequencing </div> </div> </li>  <li class='col-sm-4'> <div class='SingleIcon headline-center Component-BackGround-Defaultmargin-top-0 margin-bottom-30 padding-top-10 padding-bottom-10'> <div class="row"> </div> <div class="row"> <h3>≥200x coverage</h3> <p>(20+ Gb output)</p> </div> <div class="row"> Low frequency mutation detection<br>Measuring tumor mutational burden (TMB) </div> </div> </li>  </ul> <div class="row headline-center"> </div> </div> </div> <div class="headline-center Rich-Text-Edit-Area"> <style type="text/css"> .body1 { text-align: center; 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} #banner-right1 button { font-size: 14px; } } </style> <div class="body1"> <div class="banner-background1"> <div id="banner-left1"> <img alt="" src="/-/media/13070-D_NGS-Platforms_WebBanFull-Lrg_Thumbnail.ashx?la=en&hash=2267956154B8A11D571A104DAF0356024C1845F7" /> </div> <div id="banner-right1"> <div id="banner-right1 h2"> <h3></h3> <h2>Take advantage of the latest long-read and short-read sequencing technology to accelerate your research</h2> <div id="banner-right1 h3"> <h3 style="color:#FFFFFF;"></h3> <br /> <a rel="noopener noreferrer" rel="noopener noreferrer" href="https://www.genewiz.com/en/Public/Resources/NGS-Platforms" target="_blank"><button>LEARN MORE</button></a> </div> </div> </div> </div> </div> </div> <script type="text/javascript" src="/assets/plugins/counter/jquery.counterup.min.js"></script> <script language="javascript" type="text/javascript"> jQuery(document).ready(function ($) { $(".row .category").find("img").addClass("img-responsive"); }); </script> <div class='Component-Frame pull-center Multi-column-TextBullet-Layout Component-BackGround-Gray margin-top-0 margin-bottom-0 padding-top-10 padding-bottom-0'> <div class="container"> <div class="headline-center"> <h2>Features & Benefits</h2> </div> <div class="headline-left"> </div> <div class="row category"> <div class="col-md-6 col-sm-6"> <div class="content-boxes-v3 margin-bottom-20"> <div class="col-md-2"><i class="BlueCheck icon-custom icon-bg-gray icon-4x fa fa-check" style="border: none;"></i></div> <div class="content-boxes-in-v3"> <strong>Superior data quality</strong> with a guarantee of ≥80% bases with ≥Q30 for 2x150 bp sequencing (>90% on average) </div> </div><div class="content-boxes-v3 margin-bottom-20"> <div class="col-md-2"><i class="BlueCheck icon-custom icon-bg-gray icon-4x fa fa-check" style="border: none;"></i></div> <div class="content-boxes-in-v3"> <strong>Multiple capture technologies available</strong> including Agilent SureSelect™ Human All Exon </div> </div><div class="content-boxes-v3 margin-bottom-20"> <div class="col-md-2"><i class="BlueCheck icon-custom icon-bg-gray icon-4x fa fa-check" style="border: none;"></i></div> <div class="content-boxes-in-v3"> <strong>In-house pipeline</strong> for optional Sanger-based <a href="https://web.genewiz.com/confirm-your-ngs-data">confirmatory sequencing</a> of final targets utilizing your NGS samples </div> </div> </div> <div class="col-md-6 col-sm-6"> <div class="content-boxes-v3 margin-bottom-20"> <div class="col-md-2"><i class="BlueCheck icon-custom icon-bg-gray icon-4x fa fa-check" style="border: none;"></i></div> <div class="content-boxes-in-v3"> <strong>Dedicated support</strong> from Ph.D.-level project managers at every step including post-delivery support </div> </div><div class="content-boxes-v3 margin-bottom-20"> <div class="col-md-2"><i class="BlueCheck icon-custom icon-bg-gray icon-4x fa fa-check" style="border: none;"></i></div> <div class="content-boxes-in-v3"> <strong>Complete sample-to-analysis solutions</strong> including flexible extraction and data analysis options available </div> </div> </div> </div> </div> </div><div class="headline-center Rich-Text-Edit-Area"> <div class="choose-gwz" style="background:#f1f0f0; padding-bottom: 30px; margin-top: -20px;"> More reasons to <a rel="noopener noreferrer" rel="noopener noreferrer" href="https://web.genewiz.com/why-genewiz?_ga=2.61958703.20658592.1665665586-1790848659.1652957837" target="_blank">choose Azenta</a> </div> </div> <div class="headline-center Rich-Text-Edit-Area"> <style type="text/css"> .main-container { padding: 50px 0; } .workflow-container { width: 95%; margin: 0 auto; margin-top: 40px; } .workflow { width: 100%; margin: 0 auto; text-align: center; } .workflow-step { display: inline-block; width: 24%; vertical-align: top; padding: 5px; margin-bottom: 40px; } .workflow-step img { width: 150px; margin: 0 auto; margin-bottom: 40px; } .workflow-step h3 { text-align: center; font-size: 18px; font-family: sans-serif; border-bottom: none; text-transform: none; } .workflow-step p { width: 80%; margin: 0 auto; text-align: center; } .workflow-icon { text-align: center; } @media only screen and (max-width: 1200px) { .workflow { text-align: left; margin: 0 auto; } .workflow-step { width: 30%; } } @media only screen and (max-width: 500px) { .workflow-step { width: 100%; } } </style> <div class="main-container"> <h2 style="text-align: center; margin-bottom: 30px; text-transform: uppercase;">Exome Sequencing Workflow</h2> <div class="workflow-container"> <div class="workflow"> <div class="workflow-step"> <div class="workflow-icon"> <img alt="" src="/-/media/Images/Services/NGS/Epigenomics/2019/ExomeSeqWebpageiconsadHybridization-Capture.ashx?la=en&hash=7FF954B4563C13EE67DCBB7F4228FCEB6227513E" /> </div> <h3>1. Hybridization Capture</h3> <p>Fragment gDNA, bind probes to exons, and pull down</p> </div> <div class="workflow-step"> <div class="workflow-icon"> <img alt="" src="/-/media/Images/Services/NGS/Workflows/library-prep-workflow_110x210.ashx?la=en&hash=517F7A2E145D39BF36DDADC48A68DFE054DCD56A" /> </div> <h3>2. Library Preparation</h3> <p>Add adapters to exon-enriched DNA</p> </div> <div class="workflow-step"> <div class="workflow-icon"> <img alt="" src="/-/media/Images/Services/NGS/icons/210x110/sequencing_110x210.ashx?la=en&hash=B93BB17236F44038996D8A7BA98CBC34E17B9253" /> </div> <h3>3. Sequencing</h3> <p>Sequence 2x150 bp on Illumina® platform</p> </div> <div class="workflow-step"> <div class="workflow-icon"> <img alt="" src="/-/media/Images/Services/NGS/Workflows/bioinformatics-workflow_110x210.ashx?la=en&hash=417B2CF1234DFD413A6BE5F1F798349940CD1177" /> </div> <h3>4. Data Analysis</h3> <p>Identify SNVs, INDELs, gene fusions, and CNVs</p> </div> </div> </div> </div> </div> <script language="javascript" type="text/javascript"> jQuery(document).ready(function ($) { $(".SingleIcon").find("img").addClass("img-responsive center-block"); }); </script> <div class="process-v1 icon-nav Component-BackGround-Gray margin-top-0 margin-bottom-0 padding-top-60 padding-bottom-0 "> <div class=" container"> <div class="headline-center"> <h2>Technical Resources</h2> <p></p> </div> <ul class="list-unstyled row "> <li class='col-sm-3'> <a href='/Public/Resources/Sample-Submission-Guidelines/Next-Generation-Sequencing-Sample-Submission-Guidelines' target=''> <div class='SingleIcon headline-center Component-BackGround-Default margin-top-0 margin-bottom-30 padding-top-10 padding-bottom-10'> <div class="row"> <img src="/-/media/Images/Home/icons/Purple-Icons/Prepare_Samples_Web-Icon-Workflow_Purple.ashx?h=91&la=en&w=91&hash=46CD2A5C3BAF8BA51A6B26A29368BBB9171BDA5C" alt="Building" width="91" height="91" /> </div> <div class="row"> <h3>Sample Submission Guidelines</h3> </div> <div class="row"> </div> </div> </a> </li>  <li class='col-sm-3'> <a href='https://web.genewiz.com/wes-faq' target='blank'> <div class='SingleIcon headline-center Component-BackGround-Default margin-top-0 margin-bottom-30 padding-top-10 padding-bottom-10'> <div class="row"> <img src="/-/media/Images/Home/icons/Purple-Icons/chat-bubble_Purple.ashx?h=110&la=en&w=210&hash=20D4E093CF40A1D72E7CE3721F0FDEAC239B298C" alt="Building" width="210" height="110" /> </div> <div class="row"> <h3>Frequently Asked Questions</h3> </div> <div class="row"> </div> </div> </a> </li>  <li class='col-sm-3'> <a href='https://www.genewiz.com/en/Public/Resources/Citations-Publications' target='blank'> <div class='SingleIcon headline-center Component-BackGround-Default margin-top-0 margin-bottom-30 padding-top-10 padding-bottom-10'> <div class="row"> <img src="/-/media/Images/Home/icons/Purple-Icons/open-book_Purple.ashx?h=110&la=en&w=210&hash=7574E80B1788AA80307BB72434FB52FD4A46912A" alt="Building" width="210" height="110" /> </div> <div class="row"> <h3>Azenta Citations</h3> </div> <div class="row"> </div> </div> </a> </li>  <li class='col-sm-3'> <a href='https://cdn2.hubspot.net/hubfs/3478602/Sell%20Sheet%20Collateral%20Library/NGS/NGS%20BI%20Reports/WES/WES_project_report.pdf' target='blank'> <div class='SingleIcon headline-center Component-BackGround-Default margin-top-0 margin-bottom-30 padding-top-10 padding-bottom-10'> <div class="row"> <img src="/-/media/Images/Home/icons/Purple-Icons/Single_Cell_icon_light_Purple.ashx?h=110&la=en&w=210&hash=3284394AA032C16207F15808EE49440DF386BC36" alt="" width="210" height="110" /> </div> <div class="row"> <h3>Example Data</h3> </div> <div class="row"> </div> </div> </a> </li>  </ul> <div class="row headline-center"> </div> </div> </div><div class="headline-center Rich-Text-Edit-Area"> <style type="text/css"> body { margin: 0; } .tech-resources-container { width: 1170px; margin: 0 auto; } .tech-resources-container h2 { text-align: center; border-bottom: none; } .tech-resource { display: flex; align-items: center; flex-direction: row; margin-bottom: 35px; } .resource { flex-grow: 1; } .resource-right h3, .resource-right p { width: 90%; margin: 0 auto; border-bottom: none; text-align: left; } .resource button { padding: 5px 15px; border: none; border-radius: 4px; background: #826ec3; color: #fff; font-size: 15px; font-weight: lighter; letter-spacing: 1px; margin-top: 15px; -webkit-transition: ease-in-out 0.2s; -moz-transition: ease-in-out 0.2s; -o-transition: ease-in-out 0.2s; transition: ease-in-out 0.2s; } .resource button:hover { background: #003d6a; } @media only screen and (max-width: 800px) { .tech-resource { flex-direction: column; text-align: center; } .resource-right h3, .resource-right p { text-align: center; } } @media only screen and (max-width: 1170px) { .tech-resources-container { width: 80%; margin: 0 auto; } } </style> <div style="width: 100%; background-color: #f1f0f0; padding: 0; margin: 0;margin-top: -20px;"> <div class="tech-resources-container"> <div class="tech-resource"> <div class="resource resource-left"> <img alt="" src="/-/media/13062-D_EU-Customer-Webinar_TechResource-Thumb.ashx?la=en&hash=74618789C1F38480E447D08C9D580DFDB40EFE6C" /> </div> <div class="resource resource-right"> <h3>Webinar| Non-Classical Sources of Tumour-Specific Antigen in Checkpoint Inhibitor Response</h3> <p>Developing immunotherapies for cancer can be difficult due to the variation of immune response from patient to patient. In this webinar, Dr. Litchfield from UCL Cancer Institute presents his team’s exploratory research using a multiomics approach to better understand the diversity of immune response to cancer and highlights their findings of an alternative source of a tumour-specific antigen in checkpoint inhibitor (CPI) response. <br /> <a href="https://web.genewiz.com/webinar/non-classical-sources-tumour-specific-antigen-checkpoint-inhibitor-response" target="_blank"> <button>Watch Now</button> </a> </p> </div> </div> </div> </div> </div> <div class="headline-center Rich-Text-Edit-Area"> <div class="container"> <div class="row"> <h2>NGS PLATFORMS</h2> <p>For information on our NGS platforms as well as recommended configurations of your projects, please visit the <a href="https://www.genewiz.com/en/Public/Resources/NGS-Platforms">NGS Platforms</a> page. <em>Azenta does not guarantee data output or quality for sequencing-only projects</em>.</p> </div> <div class="row row-centered margin-top-30"> <div class="col-sm-3 col-centered"><a href="#Illumina"><img alt="Illumina" src="/-/media/hires-illumina-logo-rgb_new.ashx?w=200&la=en&hash=2DE7778E5877DA9F3D063A9FAF021DA575ECF223" style="width: 200px;" /></a> </div> <div class="col-sm-3 col-centered"><a href="#PacBio"><img alt="PacBio" src="/-/media/PacBio-CSP_logo.ashx?w=200&la=en&hash=1568DC13B370C032463997ED7BC5591C1FECF672" style="width: 200px;" /></a> </div> <div class="col-sm-3 col-centered"><a href="#10x"><img alt="10x Genomics" src="/-/media/10x-Genomics-CSP_logo.ashx?w=200&la=en&hash=2584354CF0810D46E980E04C8C03461D332EE516" style="width: 200px;" /></a> </div> <div class="col-sm-3 col-centered"><a href="#Nanostring"><img alt="NanoString" src="/-/media/Images/Resources/NGS-Platforms-and-Specifications/NanoString_resized_logo.ashx?w=200&la=en&hash=A22CDFCF6A16A9884C633E8C2EF98B468325D130" style="width: 200px;" /></a> </div> </div> <div class="row row-centered margin-top-30"> <div class="col-sm-3 col-centered"><a 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