Peter Freeman - Research Explorer The University of Manchester

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class="job-title">Lecturer in Healthcare Sciences (Clinical Bioinformatics)</span>, <a rel="Organisation" href="https://research.manchester.ac.uk/en/organisations/division-of-informatics-imaging-data-sciences-l5" class="link primary"><span>Division of Informatics, Imaging & Data Sciences (L5)</span></a></li></ul></div> <div class="rendering rendering_person rendering_personorcidrendererportal rendering_person_personorcidrendererportal"><a href="https://orcid.org/0000-0002-5838-5404" target="blank" class="orcid" aria-label="Orcid" title="Orcid"><i class="icon icon-orcid-circled"> </i></a><a href="https://orcid.org/0000-0002-5838-5404" target="blank" class="orcid" aria-label="Orcid" title="Orcid">https://orcid.org/0000-0002-5838-5404</a></div> </div> <div class="rendering rendering_person rendering_personorganisationcontactrendererportal rendering_person_personorganisationcontactrendererportal"><ul><li class="emails"><span class="term">Email</span><span class="description"><a data-md5="bWFpbHRvOnBldGVyLmouZnJlZW1hbkBtYW5jaGVzdGVyLmFjLnVrIA==" href="#" class="email">peter.j.freeman<span class="email-ta"></span><script>encryptedA();</script>manchester.ac<span class="email-tod"></span><script>encryptedDot();</script>uk </a></span></li></ul></div> <div class="rendering rendering_person rendering_personorganisationaddressrendererportal rendering_person_personorganisationaddressrendererportal"><ul class="location"><li><div class="address"><p><span class="road">G.725 Stopford building</span>, <span class="building">Oxford Road</span></p><p><span class="postalcode">M13 9PT</span> <span class="city">Manchester</span></p><p class="country">United Kingdom</p></div></li></ul></div> <div class="rendering rendering_person rendering_personphdcandidatesrendererportal rendering_person_personphdcandidatesrendererportal"><p>Accepting PhD Students</p><p class="title">PhD projects</p><p class="text">https://www.findaphd.com/phds/project/variantcurator-a-spell-checker-for-genomic-variant-data-that-will-improve-diagnostic-rates-by-improving-the-accuracy-of-genetic-data-in-clinical-literature-and-increasing-the-findability-of-data-in-historic-literature/?p174023</p></div> </div> </section> <section class="metrics" aria-label="Person metrics section"> <ul class="content-statistics"> </ul> </section> </div> </div> </div> <script> $(document).ready(function () { runToolTips(); }); </script> <div class="subMenu"> <div class="content-profile-navigation"> <div class="container"> <nav aria-label="persons submenu"> <ul class="has-overflow-navigation" aria-label="persons submenu" role="menubar"> <li class="selected" role="none"> <a class="portal_link" role="menuitem" href="/en/persons/peter.j.freeman"><span> <i class="icon icon-person" aria-hidden="true"></i> <span class="label">Overview</span> </span></a> </li> <li class="" role="none"> <a class="portal_link" role="menuitem" 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</div> </div> </div> <script> var child; function openPopUp(href){ child = window.open(href,'','toolbar=0,status=0,scrollbars=1,width=1024,height=1000'); checkIfWindowHasClosed(); } function checkIfWindowHasClosed(){ var pollTimer = window.setInterval(function() { if (child.closed !== false) { // !== is required for compatibility with Opera window.clearInterval(pollTimer); // Display Toast! var x = document.getElementById("snackbar"); x.classList.add("show"); x.innerHTML = 'If you made any changes in Pure these will be visible here soon.'; setTimeout(function(){ x.classList.remove("show"); }, 5000); } }, 1000); } </script> <div id="snackbar" class="snackbar"></div> </section> <div id="main-content" class="page-section-content page-section-content-persons page-section-content-persons-view no-margin "> <section class="page-section content-relation-section person-profileinformation" aria-labelledby="person-information-title"> <div class="container"> <div class="header"> <h2 class="section-title" id="person-information-title"> <i class="icon icon-person" aria-hidden="true"></i> Personal profile </h2> </div> <div class="two-split"> <div class="half"> <div class="rendering rendering_person rendering_profileinformationportal rendering_person_profileinformationportal"><h3 class="subheader">Overview</h3><div class="textblock"><p>Peter Freeman (Formerly Causey-Freeman) is a lecturer in healthcare sciences (Clinical Bioinformatics, Genomics) at the University of Manchester, UK. As a member of the Manchester Academy for Healthcare Science Education, his main teaching role is teaching UK National Health Service scientists, and other clinical scientists how to use bioinformatics to determine whether genetic variants are pathogenic or not. He also teaches on a wider Masters programme and online PGCert in genomic medicine and co-leads the unit Introduction to programming for the PGCert and NHS STP programmes <strong><a href="https://tinyurl.com/y45upaoe">https://tinyurl.com/</a><a href="https://tinyurl.com/y45upaoe">y45upaoe</a></strong></p> <p>His research focus is in the discipline of translational bioinformatics in healthcare, particularly concentrating on improving the robustness and consistency of data shared in databases and clinical literature used in genomic diagnostics, in particular the naming of sequence variants. His Free and Open-Source software, VariantValidator <a href="https://variantvalidator.org/">https://variantvalidator.org/</a> is widely regarded as the most accurate variant description validation software and is used in diagnostic labs and research institutions world-wide. VariantValidator was recognised as World-Leading research by the Research Excellence Framework REF 2021 <a href="https://twitter.com/VariantValidatr/status/1524725459455557633">https://twitter.com/VariantValidatr/status/1524725459455557633</a></p> <p>In 2020 VariantValidator was endorsed by the Human Genome Organisation (HUGO) Reporting of Sequence Variants Working Group, and Peter was made a member of this group. Peter is very excited about the opportunities that have arisen thanks to the Human Genome Organisation (HUGO) Reporting of Sequence Variants Working Group’s efforts. They have enabled him to work with major partners, including clinical journals, to begin collaborative harmonisation efforts intended to eliminate miss-naming of sequence variants in clinical literature and databases. VariantValidator is being used as key "translation engine" providing resources that seamlessly converts variant descriptions between the different formats used in different databases and literature, making it easier for clinicians to rapidly identify sequence variant data in clinical literature and clinical databases by eliminating discrepancies in the naming of the data. </p> <p>Although it is “early days” Peter’s hopes that this collaborative effort will substantially reduce the time clinicians take when performing literature and database searchers and will help to tackle the diagnostic odyssey where it currently takes on average 5 years to diagnose a rare genetic illness at the molecular level. During this time, patients and their families find it difficult to access effective support and treatment which improve the quality of life for patients and may also save lives. Tackling this odyssey became a poignant personal challenge for Peter in 2021 and he has first-hand experience of the challenges families face trying to access support. Peter is now taking steps to become an advocate for patients and families with genetic illnesses, providing both personal experience of the difficulties alongside the extensive knowledge of laboratory and computational genomics that he has developed over the last 20 or so years. In 2022 Peter was delighted to be offered the post of Senior Technical Edoitor, Patient Editor and Section editor at the Elsevier journal, Genetics in Medicine. In this role he helps to plan strategies for effective patient representation in journal entries and also provides specialist scientific knowledge in the field of genomics bioinformatics. </p> <p>After completing his PhD in 2007 at the University of Leicester, he became a post-doctoral researcher at Leicester specialising in empirical genome analysis techniques and developing novel methods to improve Next Generation Sequencing techniques.</p> <p>In 2015, he switched career paths from laboratory work into the bioinformatics space. He developed genomic sequence variant nomenclature software called VariantValidator. VariantValidator is endorsed as a gold-standard sequence variant description tool by world leading biomedical journals including Human Mutation and Genetics in Medicine. VariantValidator is integrated into genomic analysis and diagnostic pipelines including packages created by the Global Alliance for Genomics and Health, UKs NHS and Leiden Open Variant Database (LOVD). VariantValidator is also endorsed by genomics Quality Assurance bodies in the UK, USA and EU. </p> <p>In late 2018, Peter was made a member of the HGVS Sequence Variant Nomenclature working group and was also awarded an honorary lectureship at the University of Leicester where he actively contributes to ongoing research.</p> <p>In March 2019 Peter moved to the University of Manchester to apply his knowledge of quality standards in genomic sequence variation classification into teaching and research around genomic medicine.</p> <p>In 2020 Peter was appointed a member of the Human Genome Organisation (HUGO) Reporting of Sequence Variants Working Group who are driving improved standards of sequence variant reporting in biomedical journals. </p></div><h3 class="subheader">Teaching</h3><div class="textblock"><p>Unit co-lead</p> <ul><li>Online postgraduate certificate in <a title="Clinical Bioinformatics" href="https://www.manchester.ac.uk/study/masters/courses/list/12099/pgcert-clinical-bioinformatics/course-details/">Clinical Bioinformatics</a> . Unit 3: Introduction to Programming for Clinical Bioinformatics</li><li>NHS Scientist Training Programme (STP), Introduction to Programming for Clinical Bioinformatics</li></ul> <p>Unit lecturer</p> <ul><li>Online postgraduate certificate in Clinical Bioinformatics, Unit 1: Introduction to Clinical Bioinformatics</li><li>Online postgraduate certificate in Clinical Bioinformatics, Unit 4: Introduction to Next Generation Sequencing</li><li>STP, Introduction to Clinical Bioinformatics</li><li>Genomics Medicine MSC, Introduction to Clinical Bioinformatics</li><li>STP Advanced Clinical Bioinformatics</li></ul></div><h3 class="subheader">Memberships of committees and professional bodies</h3><div class="textblock"><p>Member of:</p> <ul><li>The Human Genome Variation Society (HGVS) Sequence Variant Description Working Group <a href="http://varnomen.hgvs.org/">http://varnomen.hgvs.org/</a></li><li>The Human Genome Organisation (HUGO) <span style="font-weight: 400;">Reporting of Sequence Variants Working Group <a class="epub-doi" href="https://doi.org/10.1002/humu.24144">https://doi.org/10.1002/humu.24144</a></span></li></ul></div><h3 class="subheader">Further information</h3><div class="textblock"><p><strong>Research Software output</strong></p> <p><a href="https://variantvalidator.org/">https://variantvalidator.org/</a></p> <p><a href="http://rest.variantvalidator.org/">http://rest.variantvalidator.org/</a></p> <p><a href="https://github.com/openvar">https://github.com/openvar</a></p></div></div> <div class="sdg-content-wrap "> <h3 class="subheader">Expertise related to UN Sustainable Development Goals</h3> <p class="sdg-text">In 2015, UN member states agreed to 17 global <a href="https://www.un.org/sustainabledevelopment/sustainable-development-goals/" target="_blank">Sustainable Development Goals (SDGs)</a> to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):</p> <ul class="sdgs-content"> <li> <img alt="SDG 3 - Good Health and Well-being" title="SDG 3 - Good Health and Well-being" class="good_health_and_well_being" src="/assets/sdg_icons/good_health_and_well_being-ca66cb937719976ce918816020def2ec.svg"/> </li> <li> <img alt="SDG 4 - Quality Education" title="SDG 4 - Quality Education" class="quality_education" src="/assets/sdg_icons/quality_education-b37c6b2dd2b60bc918ec5feef320cb1d.svg"/> </li> <li> <img alt="SDG 16 - Peace, Justice and Strong Institutions" title="SDG 16 - Peace, Justice and Strong Institutions" class="peace_justice_and_strong_institutions" src="/assets/sdg_icons/peace_justice_and_strong_institutions-05bb2c5c2784243923979f91286779c0.svg"/> </li> </ul> </div> </div> <div class="half"> <div class="rendering rendering_person rendering_personeducationrendererportal rendering_person_personeducationrendererportal"><h3 class="subheader">Education/Academic qualification</h3><div class="rendering rendering_personeducation rendering_compact rendering_personeducation_compact"><p>Doctor of Philosophy, Genetics, <span class="rendering rendering_inline rendering_ueoexternalorganisation rendering_ueoexternalorganisation_inline">University of Leicester</span></p><p><span class="date">31 Oct 2003</span> → <span class="date">31 Jul 2007</span></p><p>Award Date: 5 Jan 2008</p></div><div class="rendering rendering_personeducation rendering_compact rendering_personeducation_compact"><p>Bachelor of Science, Molecular Biology, <span class="rendering rendering_inline rendering_organisation rendering_organisation_inline"><span>The University of Manchester</span></span></p><p><span class="date">1 Sept 1999</span> → <span class="date">30 Jun 2002</span></p><p>Award Date: 25 Jun 2002</p></div></div> <div class="rendering rendering_person rendering_personexternalpositionsrendererportal rendering_person_personexternalpositionsrendererportal"><h3 class="subheader">External positions</h3><div class="rendering rendering_personexternalpositions rendering_compact rendering_personexternalpositions_compact"><p>Patient Editor (Genetics in Medicine), <span class="rendering rendering_inline rendering_ueoexternalorganisation rendering_ueoexternalorganisation_inline">Elsevier BV</span></p><p><span class="date">18 Apr 2022</span> → …</p></div><div class="rendering rendering_personexternalpositions rendering_compact rendering_personexternalpositions_compact"><p>Section Editor (Genetics in Medicine), <span class="rendering rendering_inline rendering_ueoexternalorganisation rendering_ueoexternalorganisation_inline">Elsevier BV</span></p><p><span class="date">18 Apr 2022</span> → …</p></div><div class="rendering rendering_personexternalpositions rendering_compact rendering_personexternalpositions_compact"><p>Senior Technical Editor, <span class="rendering rendering_inline rendering_ueoexternalorganisation rendering_ueoexternalorganisation_inline">Genetics in Medicine</span></p><p><span class="date">18 Apr 2022</span> → …</p></div><div class="rendering rendering_personexternalpositions rendering_compact rendering_personexternalpositions_compact"><p>Honorary Lecturer, <span class="rendering rendering_inline rendering_ueoexternalorganisation rendering_ueoexternalorganisation_inline">University of Leicester</span></p><p><span class="date">18 Jan 2019</span> → …</p></div></div> <div class="rendering rendering_keywordable rendering_expertkeywordgroupsportal rendering_keywordable_expertkeywordgroupsportal"><div class="keyword-group"><h3 class="subheader">Areas of expertise</h3><ul class="relations keywords"><li><span>QH426 Genetics</span></li><li><span>QA76 Computer software</span></li><li><span>T201 Patents. Trademarks</span></li></ul></div><div class="keyword-group"><h3 class="subheader">Research Beacons, Institutes and Platforms</h3><ul class="relations keywords"><li><span>Digital Futures</span></li></ul></div></div> </div> </div> </div> </section> <section class="page-section content-relation-section person-fingerprint" aria-labelledby="fingerprint-title"> <div class="container"> <div class="header has-similar-profiles"> <div class="title"> <h2 class="section-title" id="fingerprint-title"> <i class="icon icon-fingerprint" aria-hidden="true"></i> <span class="title">Fingerprint</span> </h2> <div dir="ltr" class="sub-title"> Dive into the research topics where Peter Freeman is active. These topic labels come from the works of this person. Together they form a unique fingerprint. </div> </div> <div class="content-statistics"> <ul class="content-statistics"> <li> <a class="portal_link count increment-counter" aria-label="Similar Profiles" href="/en/persons/peter.j.freeman/similar/"><span> 6 </span></a> <span class="label">Similar Profiles</span> </li> </ul> </div> </div> <div class="person-top-concepts"> <ul role="menubar"> <li class="concept-badge-large-container dropdown-overflow" role="none"> <button tabindex="0" class="concept-badge-large dropdown-toggle" type="button" role="menuitem" aria-haspopup="true" aria-expanded="false" aria-controls="9100c671-0298-4cc6-8abb-3ac211ad2fd2" data-concept-uuid="9100c671-0298-4cc6-8abb-3ac211ad2fd2" data-rank-size="32" data-rank-thickness="8" data-rank-value="1.0" data-summary="true" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper" title="100%"> <span class="rank"></span> <span class="concept">Human Genome</span> <span class="thesauri">Biochemistry, Genetics 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type="button" role="menuitem" aria-haspopup="true" aria-expanded="false" aria-controls="c35a2d1e-3168-49b4-90b3-0a2750e0429e" data-concept-uuid="c35a2d1e-3168-49b4-90b3-0a2750e0429e" data-rank-size="32" data-rank-thickness="8" data-rank-value="0.64285715" data-summary="true" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper" title="64%"> <span class="rank"></span> <span class="concept">Genome Variation</span> <span class="thesauri">Biochemistry, Genetics and Molecular Biology</span> <span class="value sr-only">64%</span> </span> </button> <div class="dropdown-container"></div> </li> <li class="concept-badge-large-container dropdown-overflow" role="none"> <button tabindex="0" class="concept-badge-large dropdown-toggle" type="button" role="menuitem" aria-haspopup="true" aria-expanded="false" aria-controls="eb563813-9920-4bc6-8fce-c5067d5ab003" data-concept-uuid="eb563813-9920-4bc6-8fce-c5067d5ab003" data-rank-size="32" data-rank-thickness="8" data-rank-value="0.375" 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<span class="value sr-only">35%</span> </span> </button> <div class="dropdown-container"></div> </li> <li class="concept-badge-large-container dropdown-overflow" role="none"> <button tabindex="0" class="concept-badge-large dropdown-toggle" type="button" role="menuitem" aria-haspopup="true" aria-expanded="false" aria-controls="4f4cc6a3-9f55-4c41-991c-0fe2da3a42c1" data-concept-uuid="4f4cc6a3-9f55-4c41-991c-0fe2da3a42c1" data-rank-size="32" data-rank-thickness="8" data-rank-value="0.35714285" data-summary="true" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper" title="35%"> <span class="rank"></span> <span class="concept">Genome Analysis</span> <span class="thesauri">Medicine and Dentistry</span> <span class="value sr-only">35%</span> </span> </button> <div class="dropdown-container"></div> </li> <li class="concept-badge-large-container dropdown-overflow" role="none"> <button tabindex="0" class="concept-badge-large dropdown-toggle" type="button" role="menuitem" aria-haspopup="true" aria-expanded="false" aria-controls="3f1e20ef-1ebc-4085-bdce-8a5c9704a557" data-concept-uuid="3f1e20ef-1ebc-4085-bdce-8a5c9704a557" data-rank-size="32" data-rank-thickness="8" data-rank-value="0.333333325" data-summary="true" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper" title="33%"> <span class="rank"></span> <span class="concept">Pythonidae</span> <span class="thesauri">Biochemistry, Genetics and Molecular Biology</span> <span class="value sr-only">33%</span> </span> </button> <div class="dropdown-container"></div> </li> <li class="concept-badge-large-container dropdown-overflow" role="none"> <button tabindex="0" class="concept-badge-large dropdown-toggle" type="button" role="menuitem" aria-haspopup="true" aria-expanded="false" aria-controls="efd5b5e5-761e-4d3e-841c-a3dcfa0d205d" data-concept-uuid="efd5b5e5-761e-4d3e-841c-a3dcfa0d205d" data-rank-size="32" data-rank-thickness="8" data-rank-value="0.321428575" data-summary="true" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper" title="32%"> <span class="rank"></span> <span class="concept">Genetic Divergence</span> <span class="thesauri">Biochemistry, Genetics and Molecular Biology</span> <span class="value sr-only">32%</span> </span> </button> <div class="dropdown-container"></div> </li> </ul> </div> <div class="footer"> <div class="view-all align-center"> <a class="portal_link btn-primary btn-large" href="/en/persons/peter.j.freeman/fingerprints/"><span> View full fingerprint <i class="icon icon-right-open-mini" aria-hidden="true"></i> </span></a> </div> </div> </div> </section> <section class="page-section content-relation-section person-network" aria-labelledby="networkmap-title"> <div class="container"> <div class="header"> <h2 class="section-title" id="networkmap-title"> <i class="icon icon-network-menu" aria-hidden="true"></i> <span class="title">Collaborations and top research areas from the last five years</span> </h2> <div class="sub-title"> Recent external collaboration on country/territory level. Dive into details by clicking on the dots or <button id="showCountries">Select a country/territory from the list</button><br/> </div> </div> <div style="display: none;" role="dialog" id="countryList" aria-modal="true" aria-labelledby="modal-heading" aria-describedby="modal-description"> <div class="header"> <h1 class="title"> <span class="title">Dive into details</span> </h1> <p> Select a country/territory to view shared publications and projects </p> </div> <button class="close-filter map"> Close </button> </div> <div style="display: none;" id="filter-popup-bgoverlay"></div> <div id="network-map-container" aria-hidden="true" class="world-map-container" data-url="/en/persons/peter.j.freeman/network-map-json/" data-node-url="/en/persons/peter.j.freeman/network-map-json-country/" data-popup-url="/en/persons/f3b9aafa-80b7-48fd-be97-04f835bd0363/network-map-json-collaborations/" data-unknown-country="Unknown country/territory" data-appear-top-offset="-250"> <button aria-hidden="true" class="toggle-responsive-map"> <span>Select a country/territory from the list</span> </button> <div class="world-map"></div> </div> <ul id="network-map-concepts" style="display:none;" role="menubar"></ul> <script> $(function () { $("#network-map-container").networkMap({ createConcepts: false, limitCollaborationMapToUs: false, filterCollaborationMapData: "All" }); }); </script> <div class="footer"> <div class="view-all align-center"> <a class="portal_link btn-primary btn-large" href="/en/persons/peter.j.freeman/network/"><span> Explore network further <i class="icon icon-right-open-mini" aria-hidden="true"></i> </span></a> </div> </div> </div> </section> <section aria-label="Related content section"> <div class="page-section content-relation-section person-publications"> <div class="container"> <div class="header"> <h2 class="section-title" id="related-publications-title"> <i class="icon icon-publications" aria-hidden="true"></i> <span class="title"> Research output </span> </h2> <div class="content-trends"> <ul class="content-statistics"> <li class=""> <a class="portal_link count increment-counter" aria-label=" 11 Article" href="/en/persons/peter.j.freeman/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Farticle"><span> 11 </span></a> <span class="label">Article</span> </li> <li class=""> <a class="portal_link count increment-counter" aria-label=" 1 Chapter" href="/en/persons/peter.j.freeman/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontobookanthology%2Fchapter"><span> 1 </span></a> <span class="label">Chapter</span> </li> <li class=""> <a class="portal_link count increment-counter" aria-label=" 1 Conference contribution" href="/en/persons/peter.j.freeman/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontobookanthology%2Fconference"><span> 1 </span></a> <span class="label">Conference contribution</span> </li> <li class=""> <a class="portal_link count increment-counter" aria-label=" 1 Poster" href="/en/persons/peter.j.freeman/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontoconference%2Fposter"><span> 1 </span></a> <span class="label">Poster</span> </li> <li class="dropdown"> <button class="count increment-counter" data-toggle="dropdown"> 5 </button> <span class="label">More</span> <div class="dropdown-container"> <ul class="dropdown-menu"> <li class=""> <a class="portal_link" aria-label="1 Commentary/debate" href="/en/persons/peter.j.freeman/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Fcomment"><span> <strong>1</strong> Commentary/debate </span></a> </li> <li class=""> <a class="portal_link" aria-label="1 Editorial" href="/en/persons/peter.j.freeman/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Feditorial"><span> <strong>1</strong> Editorial </span></a> </li> <li class=""> <a class="portal_link" aria-label="1 Review article" href="/en/persons/peter.j.freeman/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Fsystematicreview"><span> <strong>1</strong> Review article </span></a> </li> <li class=""> <a class="portal_link" aria-label="1 Other contribution" href="/en/persons/peter.j.freeman/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fothercontribution%2Fother"><span> <strong>1</strong> Other contribution </span></a> </li> <li class=""> <a class="portal_link" aria-label="1 Patent" href="/en/persons/peter.j.freeman/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fpatent%2Fpatent"><span> <strong>1</strong> Patent </span></a> </li> </ul> </div> </li> </ul> <script> $("ul.content-statistics li.index").last().addClass("separator"); </script> <div class="flex-break"></div> <div class="chart-container" id="chart-content-publication-by-year" style="display: none;" aria-hidden="true" tabindex="-1"> <p class="legend">Research output per year</p> <div class="chart-wrapper"> <canvas></canvas> </div> <p class="legend">Research output per year</p> </div> <table id="publication-container-table" class="sr-only" aria-hidden="true"></table> <script> $("#chart-content-publication-by-year").contentChart({ toggle: "button[rel='toggle-publication-chart']", title: "Research output per year", labels: [2011, 2012, 2013, 2014, 2015, 2016, 2017, 2018, 2019, 2020, 2021, 2022, 2023, 2024], values: [1, 1, 0, 0, 1, 0, 0, 4, 0, 4, 2, 1, 2, 3], tableContainer: $('#publication-container-table'), }); </script> </div> </div> <div class="relation-list relation-list-publications"> <ul class="list-results"> <li class="list-result-item"> <div class="result-container"> <div class="rendering rendering_researchoutput rendering_researchoutput_portal-short rendering_contributiontojournal rendering_portal-short rendering_contributiontojournal_portal-short"><h3 class="title"><a rel="ContributionToJournal" href="https://research.manchester.ac.uk/en/publications/variantvalidator-accurate-validation-mapping-and-formatting-of-se" class="link"><span>VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions</span></a></h3><a rel="Person" href="https://research.manchester.ac.uk/en/persons/peter.j.freeman" class="link person"><span>Freeman, P. J.</span></a>, Hart, R. K., Gretton, L. J., Brookes, A. J. & Dalgleish, R., <span class="date">Jan 2018</span>, <span class="journal">In: <a rel="Journal" href="#" class="link"><span>Human Mutation.</span></a></span> <span class="volume">39</span>, <span class="journalnumber">1</span>, <span class="pages">p. 61-68</span> <span class="numberofpages">8 p.</span><p class="type"><span class="type_family">Research output<span class="type_family_sep">: </span></span><span class="type_classification_parent">Contribution to journal<span class="type_parent_sep"> › </span></span><span class="type_classification">Article</span><span class="type_classification"><span class="type_parent_sep"> › </span>peer-review</span></p></div> <div class="rendering rendering_researchoutput rendering_researchoutput_publicationattacheddocumentsportalrenderer rendering_contributiontojournal rendering_publicationattacheddocumentsportalrenderer rendering_contributiontojournal_publicationattacheddocumentsportalrenderer"><div class="open-access">Open Access</div></div> <ul class="content-concept-list" role="menubar"> <li class="concept-badge-small-container dropdown-overflow" role="none"> <button tabindex="-1" class="concept-badge-small tooltipped tooltipped-multiline tooltipped-e dropdown-toggle" role="menuitem" aria-expanded="false" aria-haspopup="true" data-concept-uuid="c35a2d1e-3168-49b4-90b3-0a2750e0429e" data-rank-value="1.0" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper"> <span class="rank"></span> <span class="concept">Genome Variation</span> <span class="value sr-only">100%</span> </span> </button> <div class="dropdown-container"></div> </li> <li class="concept-badge-small-container dropdown-overflow" role="none"> <button tabindex="-1" class="concept-badge-small tooltipped tooltipped-multiline tooltipped-e dropdown-toggle" role="menuitem" aria-expanded="false" aria-haspopup="true" data-concept-uuid="9100c671-0298-4cc6-8abb-3ac211ad2fd2" data-rank-value="1.0" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper"> <span class="rank"></span> <span class="concept">Human Genome</span> <span class="value sr-only">100%</span> </span> </button> <div class="dropdown-container"></div> </li> <li class="concept-badge-small-container dropdown-overflow" role="none"> <button tabindex="-1" class="concept-badge-small tooltipped tooltipped-multiline tooltipped-e dropdown-toggle" role="menuitem" aria-expanded="false" aria-haspopup="true" data-concept-uuid="3f1e20ef-1ebc-4085-bdce-8a5c9704a557" data-rank-value="0.3333333" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper"> <span class="rank"></span> <span class="concept">Pythonidae</span> <span class="value sr-only">33%</span> </span> </button> <div class="dropdown-container"></div> </li> <li class="concept-badge-small-container dropdown-overflow" role="none"> <button tabindex="-1" class="concept-badge-small tooltipped tooltipped-multiline tooltipped-e dropdown-toggle" role="menuitem" aria-expanded="false" aria-haspopup="true" data-concept-uuid="16b54871-cd5e-483f-bf45-06a917b67128" data-rank-value="0.1666667" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper"> <span class="rank"></span> <span class="concept">Solution and Solubility</span> <span class="value sr-only">16%</span> </span> </button> <div class="dropdown-container"></div> </li> </ul> </div> <div class="publication-metrics" aria-label="Publication metrics section"> <div class="metrics-container"> <div class="metrics-wrap metrics-bottom "> <div class="metric metric-plum-x"> <a href="https://plu.mx/plum/a/?doi=10.1002/humu.23348" class="plumx-plum-print-popup" data-on-empty="plumXError" data-on-fail="plumXError" data-on-success="plumXSuccess" data-popup="left" data-hide-when-empty="true" data-site="plum" data-badge="false"></a> </div> <div class="metric metric-altmetric"> <div data-badge-popover="top" data-badge-type="donut" data-doi="10.1002/humu.23348" data-hide-no-mentions="true" data-link-target='_blank' class="altmetric-embed"></div> </div> </div> </div> </div> </li> <li class="list-result-item"> <div class="result-container"> <div class="rendering rendering_researchoutput rendering_researchoutput_portal-short rendering_contributiontojournal rendering_portal-short rendering_contributiontojournal_portal-short"><h3 class="title"><a rel="ContributionToJournal" href="https://research.manchester.ac.uk/en/publications/a-corpus-of-ga4gh-phenopackets-case-level-phenotyping-for-genomic-2" class="link"><span>A corpus of GA4GH phenopackets: case-level phenotyping for genomic diagnostics and discovery</span></a></h3>Danis, D., Bamshad, M. J., Bridges, Y., Caballero-Oteyza, A., Cacheiro, P., Carmody, L. C., Chimirri, L., Chong, J. X., Coleman, B., Dalgleish, R., <a rel="Person" href="https://research.manchester.ac.uk/en/persons/peter.j.freeman" class="link person"><span>Freeman, P. J.</span></a>, Graefe, A. S. L., Groza, T., Hansen, P., Jacobsen, J. O. B., Klocperk, A., Kusters, M., Ladewig, M. S., Marcello, A. J. & Mattina, T.<a onclick="$(this).next('span').toggleClassName('common_hidden');$(this).addClassName('common_hidden'); return pure.stopEvent(event);" href="#" class="link"><span> & 15 others</span></a>, <span class="common_hidden publication_authors_full_inline_list">Mungall, C. J., Munoz-Torres, M. C., Reese, J. T., Rehburg, F., Reis, B. C. S., Schuetz, C., Smedley, D., Strauss, T., Chandrabose Sundaramurthi, J., Thun, S., Wissink, K., Wagstaff, J. F., Zocche, D., Haendel, M. A. & Robinson, P. N.</span>, <span class="date">10 Oct 2024</span>, (E-pub ahead of print) <span class="journal">In: <a rel="Journal" href="#" class="link"><span>Human Genetics and Genomics Advances.</span></a></span> <span class="pages">p. 100371</span><p class="type"><span class="type_family">Research output<span class="type_family_sep">: </span></span><span class="type_classification_parent">Contribution to journal<span class="type_parent_sep"> › </span></span><span class="type_classification">Article</span><span class="type_classification"><span class="type_parent_sep"> › </span>peer-review</span></p></div> <div class="rendering rendering_researchoutput rendering_researchoutput_publicationattacheddocumentsportalrenderer rendering_contributiontojournal rendering_publicationattacheddocumentsportalrenderer rendering_contributiontojournal_publicationattacheddocumentsportalrenderer"></div> <ul class="content-concept-list" role="menubar"> <li class="concept-badge-small-container dropdown-overflow" role="none"> <button tabindex="-1" class="concept-badge-small tooltipped tooltipped-multiline tooltipped-e dropdown-toggle" role="menuitem" aria-expanded="false" aria-haspopup="true" data-concept-uuid="f0724234-62a1-4970-90d0-955697c330f2" data-rank-value="1.0" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper"> <span class="rank"></span> <span class="concept">Best Practice</span> <span class="value sr-only">100%</span> </span> </button> <div class="dropdown-container"></div> </li> <li class="concept-badge-small-container dropdown-overflow" role="none"> <button tabindex="-1" class="concept-badge-small tooltipped tooltipped-multiline tooltipped-e dropdown-toggle" role="menuitem" aria-expanded="false" aria-haspopup="true" data-concept-uuid="c2a117bf-30dc-45c4-9ab3-491e151d2230" data-rank-value="1.0" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper"> <span class="rank"></span> <span class="concept">Clinical Data</span> <span class="value sr-only">100%</span> </span> </button> <div class="dropdown-container"></div> </li> <li class="concept-badge-small-container dropdown-overflow" role="none"> <button tabindex="-1" class="concept-badge-small tooltipped tooltipped-multiline tooltipped-e dropdown-toggle" role="menuitem" aria-expanded="false" aria-haspopup="true" data-concept-uuid="f3146269-2c03-4c39-bff3-2dfcdb16ee27" data-rank-value="1.0" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper"> <span class="rank"></span> <span class="concept">Genetic Information</span> <span class="value sr-only">100%</span> </span> </button> <div class="dropdown-container"></div> </li> <li class="concept-badge-small-container dropdown-overflow" role="none"> <button tabindex="-1" class="concept-badge-small tooltipped tooltipped-multiline tooltipped-e dropdown-toggle" role="menuitem" aria-expanded="false" aria-haspopup="true" data-concept-uuid="087f7ae2-820d-413e-a806-b960665f3aed" data-rank-value="1.0" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper"> <span class="rank"></span> <span class="concept">Machine Learning</span> <span class="value sr-only">100%</span> </span> </button> <div class="dropdown-container"></div> </li> <li class="concept-badge-small-container dropdown-overflow" role="none"> <button tabindex="-1" class="concept-badge-small tooltipped tooltipped-multiline tooltipped-e dropdown-toggle" role="menuitem" aria-expanded="false" aria-haspopup="true" data-concept-uuid="5cc0a8a1-7135-4500-8de4-00e084549c23" data-rank-value="1.0" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper"> <span class="rank"></span> <span class="concept">Learning System</span> <span class="value sr-only">100%</span> </span> </button> <div class="dropdown-container"></div> </li> </ul> </div> <div class="publication-metrics" aria-label="Publication metrics section"> <div class="metrics-container"> <div class="metrics-wrap metrics-bottom "> <div class="metric metric-plum-x"> <a href="https://plu.mx/plum/a/?doi=10.1016/j.xhgg.2024.100371" class="plumx-plum-print-popup" data-on-empty="plumXError" data-on-fail="plumXError" data-on-success="plumXSuccess" data-popup="left" data-hide-when-empty="true" data-site="plum" data-badge="false"></a> </div> <div class="metric metric-altmetric"> <div data-badge-popover="top" data-badge-type="donut" data-doi="10.1016/j.xhgg.2024.100371" data-hide-no-mentions="true" data-link-target='_blank' class="altmetric-embed"></div> </div> </div> </div> </div> </li> <li class="list-result-item"> <div class="result-container"> <div class="rendering rendering_researchoutput rendering_researchoutput_portal-short rendering_contributiontobookanthology rendering_portal-short rendering_contributiontobookanthology_portal-short"><h3 class="title"><a rel="ContributionToBookAnthology" href="https://research.manchester.ac.uk/en/publications/genes-chromosomes-and-related-molecules" class="link"><span>Genes, Chromosomes and Related Molecules</span></a></h3><a rel="Person" href="https://research.manchester.ac.uk/en/persons/peter.j.freeman" class="link person"><span>Freeman, P. J.</span></a> & Baskin, P., <span class="date">3 May 2024</span>, <em>The CSE Manual: Scientific Style and format for Authors, Editors and Publishers.</em> <span class="edition">9 ed.</span> Chicago, IL: <a rel="Publisher" href="#" class="link"><span>University of Chicago Press</span></a>, <span class="pages">p. 367</span> <p class="type"><span class="type_family">Research output<span class="type_family_sep">: </span></span><span class="type_classification_parent">Chapter in Book/Report/Conference proceeding<span class="type_parent_sep"> › </span></span><span class="type_classification">Chapter</span><span class="type_classification"><span class="type_parent_sep"> › </span>peer-review</span></p></div> </div> <div class="publication-metrics" aria-label="Publication metrics section"> <div class="metrics-container"> <div class="metrics-wrap metrics-bottom one"> <div class="metric metric-altmetric"> <div data-badge-popover="top" data-badge-type="donut" data-uri="https://research.manchester.ac.uk/en/persons/genes-chromosomes-and-related-molecules/" data-hide-no-mentions="true" data-link-target='_blank' class="altmetric-embed"></div> </div> </div> </div> </div> </li> <li class="list-result-item"> <div class="result-container"> <div class="rendering rendering_researchoutput rendering_researchoutput_portal-short rendering_contributiontojournal rendering_portal-short rendering_contributiontojournal_portal-short"><h3 class="title"><a rel="ContributionToJournal" href="https://research.manchester.ac.uk/en/publications/standardising-variant-naming-in-literature-with-variantvalidator-" class="link"><span>Standardising variant naming in literature with VariantValidator to increase diagnostic rates</span></a></h3><a rel="Person" href="https://research.manchester.ac.uk/en/persons/peter.j.freeman" class="link person"><span>Freeman, P. J.</span></a>, Wagstaff, J. F., Fokkema, I. F. A. C., Cutting, G. R., Rehm, H. L., <a rel="Person" href="https://research.manchester.ac.uk/en/persons/angela.davies" class="link person"><span>Davies, A. C.</span></a>, den Dunnen, J. T., Gretton, L. J. & Dalgleish, R., <span class="date">2 Oct 2024</span>, <span class="journal">In: <a rel="Journal" href="#" class="link"><span>Nature Genetics.</span></a></span><p class="type"><span class="type_family">Research output<span class="type_family_sep">: </span></span><span class="type_classification_parent">Contribution to journal<span class="type_parent_sep"> › </span></span><span class="type_classification">Commentary/debate</span><span class="type_classification"><span class="type_parent_sep"> › </span>peer-review</span></p></div> <div class="rendering rendering_researchoutput rendering_researchoutput_publicationattacheddocumentsportalrenderer rendering_contributiontojournal rendering_publicationattacheddocumentsportalrenderer rendering_contributiontojournal_publicationattacheddocumentsportalrenderer"><div class="open-access">Open Access</div><div class="files">File</div></div> <ul class="content-concept-list" role="menubar"> <li class="concept-badge-small-container dropdown-overflow" role="none"> <button tabindex="-1" class="concept-badge-small tooltipped tooltipped-multiline tooltipped-e dropdown-toggle" role="menuitem" aria-expanded="false" aria-haspopup="true" data-concept-uuid="6e984c94-5254-4435-8e75-23d25d6f7156" data-rank-value="1.0" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper"> <span class="rank"></span> <span class="concept">Treatment Outcome</span> <span class="value sr-only">100%</span> </span> </button> <div class="dropdown-container"></div> </li> <li class="concept-badge-small-container dropdown-overflow" role="none"> <button tabindex="-1" class="concept-badge-small tooltipped tooltipped-multiline tooltipped-e dropdown-toggle" role="menuitem" aria-expanded="false" aria-haspopup="true" data-concept-uuid="b9f80a42-7133-4398-9aa7-ae0c9b9bc582" data-rank-value="1.0" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper"> <span class="rank"></span> <span class="concept">Diagnosis</span> <span class="value 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data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper"> <span class="rank"></span> <span class="concept">Human Genome</span> <span class="value sr-only">100%</span> </span> </button> <div class="dropdown-container"></div> </li> <li class="concept-badge-small-container dropdown-overflow" role="none"> <button tabindex="-1" class="concept-badge-small tooltipped tooltipped-multiline tooltipped-e dropdown-toggle" role="menuitem" aria-expanded="false" aria-haspopup="true" data-concept-uuid="efd5b5e5-761e-4d3e-841c-a3dcfa0d205d" data-rank-value="1.0" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper"> <span class="rank"></span> <span class="concept">Genetic Divergence</span> <span class="value sr-only">100%</span> </span> </button> <div class="dropdown-container"></div> </li> </ul> </div> <div class="publication-metrics" aria-label="Publication metrics section"> <div class="metrics-container"> <div class="metrics-wrap metrics-top one"> <div class="metric metrics-downloads"> <span class="count tooltipped tooltipped-n" aria-label="Total downloads for this work">13</span> <span class="label">Downloads (Pure)</span> </div> </div> <div class="metrics-wrap metrics-bottom "> <div class="metric metric-plum-x"> <a href="https://plu.mx/plum/a/?doi=10.1038/s41588-024-01938-w" class="plumx-plum-print-popup" data-on-empty="plumXError" data-on-fail="plumXError" data-on-success="plumXSuccess" data-popup="left" data-hide-when-empty="true" data-site="plum" data-badge="false"></a> </div> <div class="metric metric-altmetric"> <div data-badge-popover="top" data-badge-type="donut" data-doi="10.1038/s41588-024-01938-w" data-hide-no-mentions="true" data-link-target='_blank' class="altmetric-embed"></div> </div> </div> </div> </div> </li> <li class="list-result-item"> <div class="result-container"> <div class="rendering rendering_researchoutput rendering_researchoutput_portal-short rendering_contributiontojournal rendering_portal-short rendering_contributiontojournal_portal-short"><h3 class="title"><a rel="ContributionToJournal" href="https://research.manchester.ac.uk/en/publications/enhancing-mummy-palaeobiographies-though-the-use-of-multidiscipli" class="link"><span>Enhancing mummy ‘palaeobiographies’ though the use of multidisciplinary techniques and approaches</span></a></h3><a rel="Person" href="https://research.manchester.ac.uk/en/persons/keith.white-4-postgrad" class="link person"><span>White, K. N.</span></a>, Chiasserini, D., Loynes, R., David, A. R., <a rel="Person" href="https://research.manchester.ac.uk/en/persons/bart.vandongen" class="link person"><span>Dongen, B. E. V.</span></a>, <a rel="Person" href="https://research.manchester.ac.uk/en/persons/konstantina.drosou" class="link person"><span>Drosou, K.</span></a>, <a rel="Person" href="https://research.manchester.ac.uk/en/persons/roger.forshaw" class="link person"><span>Forshaw, R.</span></a>, Fraser, S., <a rel="Person" href="https://research.manchester.ac.uk/en/persons/peter.j.freeman" class="link person"><span>Causey-Freeman, P.</span></a>, Metcalfe, J., Murphy, E., Regan, M., Reimer, P. J., Tosh, D. G., <a rel="Person" href="https://research.manchester.ac.uk/en/persons/tony.whetton" class="link person"><span>Whetton, A.</span></a> & <a rel="Person" href="https://research.manchester.ac.uk/en/persons/tony.freemont" class="link person"><span>Freemont, A. J.</span></a>, <span class="date">1 Feb 2023</span>, <span class="journal">In: <a rel="Journal" href="#" class="link"><span>Journal of Archaeological Science: Reports.</span></a></span> <span class="volume">47</span>, 103784.<p class="type"><span class="type_family">Research output<span class="type_family_sep">: </span></span><span class="type_classification_parent">Contribution to journal<span class="type_parent_sep"> › </span></span><span class="type_classification">Article</span><span class="type_classification"><span class="type_parent_sep"> › </span>peer-review</span></p></div> <div class="rendering rendering_researchoutput rendering_researchoutput_publicationattacheddocumentsportalrenderer rendering_contributiontojournal rendering_publicationattacheddocumentsportalrenderer rendering_contributiontojournal_publicationattacheddocumentsportalrenderer"><div class="open-access">Open Access</div></div> <ul class="content-concept-list" role="menubar"> <li class="concept-badge-small-container dropdown-overflow" role="none"> <button tabindex="-1" class="concept-badge-small tooltipped tooltipped-multiline tooltipped-e dropdown-toggle" role="menuitem" aria-expanded="false" aria-haspopup="true" data-concept-uuid="17f7c93a-5858-4a61-9956-ef11b83be83d" data-rank-value="1.0" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper"> <span class="rank"></span> <span class="concept">Biopsy</span> <span class="value sr-only">100%</span> </span> </button> <div class="dropdown-container"></div> </li> <li class="concept-badge-small-container dropdown-overflow" role="none"> <button tabindex="-1" class="concept-badge-small tooltipped tooltipped-multiline tooltipped-e dropdown-toggle" role="menuitem" aria-expanded="false" aria-haspopup="true" data-concept-uuid="74f2c8ef-f1eb-4bb8-a2e4-d760019b838a" data-rank-value="0.5" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper"> <span class="rank"></span> <span class="concept">Diseases</span> <span class="value sr-only">50%</span> </span> </button> <div class="dropdown-container"></div> </li> <li class="concept-badge-small-container dropdown-overflow" role="none"> <button tabindex="-1" class="concept-badge-small tooltipped tooltipped-multiline tooltipped-e dropdown-toggle" role="menuitem" aria-expanded="false" aria-haspopup="true" data-concept-uuid="a0db5d90-a0ee-4550-b38a-30c502753e54" data-rank-value="0.5" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper"> <span class="rank"></span> <span class="concept">Analytic Method</span> <span class="value sr-only">50%</span> </span> </button> <div class="dropdown-container"></div> </li> <li class="concept-badge-small-container dropdown-overflow" role="none"> <button tabindex="-1" class="concept-badge-small tooltipped tooltipped-multiline tooltipped-e dropdown-toggle" role="menuitem" aria-expanded="false" aria-haspopup="true" data-concept-uuid="da8b5e08-1c08-4225-947c-047713cf60e3" data-rank-value="0.5" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper"> <span class="rank"></span> <span class="concept">Proteomics</span> <span class="value sr-only">50%</span> </span> </button> <div class="dropdown-container"></div> </li> <li class="concept-badge-small-container dropdown-overflow" role="none"> <button tabindex="-1" class="concept-badge-small tooltipped tooltipped-multiline tooltipped-e dropdown-toggle" role="menuitem" aria-expanded="false" aria-haspopup="true" data-concept-uuid="2b71ef41-11e1-4912-bae9-7213de4d222d" data-rank-value="0.5" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper"> <span class="rank"></span> <span class="concept">Biopsy Sample</span> <span class="value sr-only">50%</span> </span> </button> <div class="dropdown-container"></div> </li> </ul> </div> <div class="publication-metrics" aria-label="Publication metrics section"> <div class="metrics-container"> <div class="metrics-wrap metrics-bottom "> <div class="metric metric-plum-x"> <a href="https://plu.mx/plum/a/?doi=10.1016/j.jasrep.2022.103784" class="plumx-plum-print-popup" data-on-empty="plumXError" data-on-fail="plumXError" data-on-success="plumXSuccess" data-popup="left" data-hide-when-empty="true" data-site="plum" data-badge="false"></a> </div> <div class="metric metric-altmetric"> <div data-badge-popover="top" data-badge-type="donut" data-doi="10.1016/j.jasrep.2022.103784" data-hide-no-mentions="true" data-link-target='_blank' class="altmetric-embed"></div> </div> </div> </div> </div> </li> </ul> </div> <div class="footer"> <div class="view-all"> <a class="portal_link btn-primary btn-large" href="/en/persons/peter.j.freeman/publications/"><span> View all 19 research outputs <i class="icon icon-right-open-mini" aria-hidden="true"></i> </span></a> </div> </div> </div> </div> <div class="page-section content-relation-section person-prizes"> <div class="container"> <div class="header"> <h2 class="section-title" id="related-prizes-title"> <i class="icon icon-prizes" aria-hidden="true"></i> <span class="title"> Prizes </span> </h2> </div> <div class="relation-list relation-list-prizes"> <ul class="list-results"> <li class="list-result-item"> <div class="result-container"> <div class="rendering rendering_prize rendering_short rendering_prize_short"><h3 class="title"><a rel="Prize" href="https://research.manchester.ac.uk/en/prizes/senior-fellow-of-the-higher-education-academy-2" class="link"><span>Senior Fellow of the Higher Education Academy</span></a></h3><p><a rel="Person" href="https://research.manchester.ac.uk/en/persons/peter.j.freeman" class="link person"><span>Freeman, P.</span></a> (Recipient), <span class="prize_shortrenderer_date">2024</span></p><p class="type"><span class="type_family">Prize<span class="type_family_sep">: </span></span><span class="type_classification">Other distinction</span></p></div> </div> </li> <li class="list-result-item"> <div class="result-container"> <div class="rendering rendering_prize rendering_short rendering_prize_short"><h3 class="title"><a rel="Prize" href="https://research.manchester.ac.uk/en/prizes/teaching-excellence-award-highly-commended" class="link"><span>Teaching Excellence Award (Highly Commended)</span></a></h3><p><a rel="Person" href="https://research.manchester.ac.uk/en/persons/peter.j.freeman" class="link person"><span>Freeman, P.</span></a> (Recipient), <a rel="Person" href="https://research.manchester.ac.uk/en/persons/frances.hooley" class="link person"><span>Hooley, F.</span></a> (Recipient), Sargeant, V. (Recipient), Harvey, J. (Recipient), Wade, C. (Recipient), Trimbel, P. (Recipient) & <a rel="Person" href="https://research.manchester.ac.uk/en/persons/martin.fergie" class="link person"><span>Fergie, M.</span></a> (Recipient), <span class="prize_shortrenderer_date">2023</span></p><p class="type"><span class="type_family">Prize<span class="type_family_sep">: </span></span><span class="type_classification">Other distinction</span></p></div> <ul class="content-concept-list" role="menubar"> <li class="concept-badge-small-container dropdown-overflow" role="none"> <button tabindex="-1" class="concept-badge-small tooltipped tooltipped-multiline tooltipped-e dropdown-toggle" role="menuitem" aria-expanded="false" aria-haspopup="true" data-concept-uuid="48797977-131c-4073-86b5-cc43355c8b1b" data-rank-value="1.0" data-summary-url="/en/concepts/summary/"> <span class="concept-wrapper"> <span class="rank"></span> <span class="concept">Health Science</span> <span class="value sr-only">100%</span> </span> </button> <div class="dropdown-container"></div> </li> </ul> </div> </li> </ul> </div> <div class="footer"> </div> </div> </div> <div class="page-section content-relation-section person-activities"> <div class="container"> <div class="header"> <h2 class="section-title" id="related-activities-title"> <i class="icon icon-activities" aria-hidden="true"></i> <span class="title"> Activities </span> </h2> <div class="content-trends"> <ul class="content-statistics"> <li class=""> <a class="portal_link count increment-counter" aria-label=" 3 Membership of committee" href="/en/persons/peter.j.freeman/activities/?type=%2Fdk%2Fatira%2Fpure%2Factivity%2Factivitytypes%2Fmembership%2Fcommittee"><span> 3 </span></a> <span class="label">Membership of committee</span> </li> <li class=""> <a class="portal_link count increment-counter" aria-label=" 3 Invited talk" href="/en/persons/peter.j.freeman/activities/?type=%2Fdk%2Fatira%2Fpure%2Factivity%2Factivitytypes%2Ftalk%2Finvited_talk"><span> 3 </span></a> <span class="label">Invited talk</span> </li> <li class=""> <a class="portal_link count increment-counter" aria-label=" 3 Oral presentation" href="/en/persons/peter.j.freeman/activities/?type=%2Fdk%2Fatira%2Fpure%2Factivity%2Factivitytypes%2Ftalk%2Foral_presentation"><span> 3 </span></a> <span class="label">Oral presentation</span> </li> <li class=""> <a class="portal_link count increment-counter" aria-label=" 2 Membership of professional association" href="/en/persons/peter.j.freeman/activities/?type=%2Fdk%2Fatira%2Fpure%2Factivity%2Factivitytypes%2Fmembership%2Fmembership_of_professional_association"><span> 2 </span></a> <span class="label">Membership of professional association</span> </li> <li class="dropdown"> <button class="count increment-counter" data-toggle="dropdown"> 3 </button> <span class="label">More</span> <div class="dropdown-container"> <ul class="dropdown-menu"> <li class=""> <a class="portal_link" aria-label="1 Editorial work" href="/en/persons/peter.j.freeman/activities/?type=%2Fdk%2Fatira%2Fpure%2Factivity%2Factivitytypes%2Feditorialwork%2Feditorial"><span> <strong>1</strong> Editorial work </span></a> </li> <li class=""> <a class="portal_link" aria-label="1 Other" href="/en/persons/peter.j.freeman/activities/?type=%2Fdk%2Fatira%2Fpure%2Factivity%2Factivitytypes%2Fotheractivity%2Fother_activity"><span> <strong>1</strong> Other </span></a> </li> <li class=""> <a class="portal_link" aria-label="1 Visiting an external non-academic organisation" href="/en/persons/peter.j.freeman/activities/?type=%2Fdk%2Fatira%2Fpure%2Factivity%2Factivitytypes%2Fvisitother%2Fvisiting_an_external_non_academic_organisation"><span> <strong>1</strong> Visiting an external non-academic organisation </span></a> </li> </ul> </div> </li> </ul> <div class="flex-break"></div> <div class="chart-container" id="chart-content-activity-by-year" style="display: none;" aria-hidden="true" tabindex="-1"> <p class="legend">Activities per year</p> <div class="chart-wrapper"> <canvas></canvas> </div> </div> <table id="activity-container-table" class="sr-only" aria-hidden="true"></table> <script> $("#chart-content-activity-by-year").contentChart({ toggle: "button[rel='toggle-activity-chart']", title: "Activities per year", labels: [2018, 2019, 2020, 2021, 2022, 2023, 2024], values: [2, 4, 4, 1, 1, 0, 2], tableContainer: $('#activity-container-table'), }); </script> </div> </div> <div class="relation-list relation-list-activities"> <ul class="list-results"> <li class="list-result-item"> <div class="result-container"> <div class="rendering rendering_activity rendering_activity_short rendering_talk rendering_short rendering_talk_short"><h3 class="title"><a rel="Talk" href="https://research.manchester.ac.uk/en/activities/variantvalidator-standardising-variant-naming-in-literature-to-in" class="link"><span>VariantValidator: Standardising variant naming in literature to increase diagnostic rates</span></a></h3><p><a rel="Person" href="https://research.manchester.ac.uk/en/persons/peter.j.freeman" class="link person"><span>Freeman, P.</span></a> (Speaker)</p><div class="dates"><span class="date">2 Jul 2024</span></div><p class="type"><span class="type_family">Activity<span class="type_family_sep">: </span></span><span class="type_classification_parent">Talk or presentation<span class="type_parent_sep"> › </span></span><span class="type_classification">Invited talk</span><span class="type_classification"><span class="type_parent_sep"> › </span>Teaching and Research</span></p></div> <div class="rendering rendering_activity rendering_activity_documentsattachedportalrendererng rendering_talk rendering_documentsattachedportalrendererng rendering_talk_documentsattachedportalrendererng"></div> </div> </li> <li class="list-result-item"> <div class="result-container"> <div class="rendering rendering_activity rendering_activity_short rendering_membership rendering_short rendering_membership_short"><h3 class="title"><a rel="Membership" href="https://research.manchester.ac.uk/en/activities/american-college-of-molecular-genetics-acmg-technical-standards-f" class="link"><span>American College of Molecular Genetics (ACMG) Technical standards for journals and authors for the reporting and sharing of interpreted genomic variation Working Group (External organisation)</span></a></h3><p><a rel="Person" href="https://research.manchester.ac.uk/en/persons/peter.j.freeman" class="link person"><span>Freeman, P.</span></a> (Academic expert member)</p><div class="dates"><span class="date">2024</span> → …</div><p class="type"><span class="type_family">Activity<span class="type_family_sep">: </span></span><span class="type_classification_parent">Membership<span class="type_parent_sep"> › </span></span><span class="type_classification">Membership of committee</span><span class="type_classification"><span class="type_parent_sep"> › </span>Teaching and Research</span></p></div> </div> </li> <li class="list-result-item"> <div class="result-container"> <div class="rendering rendering_activity rendering_activity_short rendering_editorialwork rendering_short rendering_editorialwork_short"><h3 class="title"><a rel="EditorialWork" href="https://research.manchester.ac.uk/en/activities/genetics-in-medicine-journal" class="link"><span>Genetics in Medicine (Journal)</span></a></h3><p><a rel="Person" href="https://research.manchester.ac.uk/en/persons/peter.j.freeman" class="link person"><span>Freeman, P.</span></a> (Editor)</p><div class="dates"><span class="date">2022</span> → …</div><p class="type"><span class="type_family">Activity<span class="type_family_sep">: </span></span><span class="type_classification_parent">Publication peer-review and editorial work<span class="type_parent_sep"> › </span></span><span class="type_classification">Editorial work</span><span class="type_classification"><span class="type_parent_sep"> › </span>Teaching and Research</span></p></div> </div> </li> <li class="list-result-item"> <div class="result-container"> <div class="rendering rendering_activity rendering_activity_short rendering_membership rendering_short rendering_membership_short"><h3 class="title"><a rel="Membership" href="https://research.manchester.ac.uk/en/activities/human-genome-organization-hugo-reporting-of-sequence-variants-com" class="link"><span>Human Genome Organization (HUGO) Reporting of Sequence Variants Committee (External organisation)</span></a></h3><p><a rel="Person" href="https://research.manchester.ac.uk/en/persons/peter.j.freeman" class="link person"><span>Freeman, P.</span></a> (Academic expert member)</p><div class="dates"><span class="date">2021</span> → …</div><p class="type"><span class="type_family">Activity<span class="type_family_sep">: </span></span><span class="type_classification_parent">Membership<span class="type_parent_sep"> › </span></span><span class="type_classification">Membership of committee</span><span class="type_classification"><span class="type_parent_sep"> › </span>Teaching and Research</span></p></div> <div class="rendering rendering_activity rendering_activity_documentsattachedportalrendererng rendering_membership rendering_documentsattachedportalrendererng rendering_membership_documentsattachedportalrendererng"></div> </div> </li> <li class="list-result-item"> <div class="result-container"> <div class="rendering rendering_activity rendering_activity_short rendering_talk rendering_short rendering_talk_short"><h3 class="title"><a rel="Talk" href="https://research.manchester.ac.uk/en/activities/community-driven-software-to-improve-the-quality-of-genetic-varia" class="link"><span>Community-driven software to improve the quality of genetic variant reporting</span></a></h3><p><a rel="Person" href="https://research.manchester.ac.uk/en/persons/peter.j.freeman" class="link person"><span>Causey-Freeman, P.</span></a> (Speaker)</p><div class="dates"><span class="date">Nov 2020</span></div><p class="type"><span class="type_family">Activity<span class="type_family_sep">: </span></span><span class="type_classification_parent">Talk or presentation<span class="type_parent_sep"> › </span></span><span class="type_classification">Invited talk</span><span class="type_classification"><span class="type_parent_sep"> › </span>Research</span></p></div> </div> </li> </ul> </div> <div class="footer"> <div class="view-all"> <a class="portal_link btn-primary btn-large" href="/en/persons/peter.j.freeman/activities/"><span> View all 14 activities <i class="icon icon-right-open-mini" aria-hidden="true"></i> </span></a> </div> </div> </div> </div> <div class="page-section content-relation-section person-datasets"> <div class="container"> <div class="header"> <h2 class="section-title" id="related-datasets-title"> <i class="icon icon-datasets" aria-hidden="true"></i> <span class="title"> Datasets </span> </h2> </div> <div class="relation-list relation-list-datasets"> <ul class="list-results"> <li class="list-result-item"> <div class="result-container"> <div class="rendering rendering_dataset rendering_short rendering_dataset_short"><h3 class="title"><a rel="DataSet" href="https://research.manchester.ac.uk/en/datasets/ensembluta" class="link"><span>EnsemblUTA</span></a></h3><p><a rel="Person" href="https://research.manchester.ac.uk/en/persons/peter.j.freeman" class="link person"><span>Causey-Freeman, P.</span></a> (Creator), GitHub, <span class="date">2019</span></p><p class="links-doi"><a onclick="window.open(this.href, '_blank','noopener,noreferrer'); return false;" href="https://github.com/biocommons/uta/tree/master/misc/EnsemblUTA" class="link"><span>https://github.com/biocommons/uta/tree/master/misc/EnsemblUTA</span></a></p><p class="type"><span class="type_family">Dataset</span></p></div> <div class="rendering rendering_dataset rendering_documentsattachedportalrendererng rendering_dataset_documentsattachedportalrendererng"></div> </div> </li> <li class="list-result-item"> <div class="result-container"> <div class="rendering rendering_dataset rendering_short rendering_dataset_short"><h3 class="title"><a rel="DataSet" href="https://research.manchester.ac.uk/en/datasets/variantformatter" class="link"><span>VariantFormatter</span></a></h3><p><a rel="Person" href="https://research.manchester.ac.uk/en/persons/peter.j.freeman" class="link person"><span>Causey-Freeman, P.</span></a> (Creator), GitHub, <span class="date">2019</span></p><p class="links-doi"><a onclick="window.open(this.href, '_blank','noopener,noreferrer'); return false;" href="https://github.com/openvar/variantFormatter" class="link"><span>https://github.com/openvar/variantFormatter</span></a></p><p class="type"><span class="type_family">Dataset</span></p></div> <div class="rendering rendering_dataset rendering_documentsattachedportalrendererng rendering_dataset_documentsattachedportalrendererng"></div> </div> </li> <li class="list-result-item"> <div class="result-container"> <div class="rendering rendering_dataset rendering_short rendering_dataset_short"><h3 class="title"><a rel="DataSet" href="https://research.manchester.ac.uk/en/datasets/variantvalidator" class="link"><span>VariantValidator</span></a></h3><p><a rel="Person" href="https://research.manchester.ac.uk/en/persons/peter.j.freeman" class="link person"><span>Causey-Freeman, P.</span></a> (Creator) & Forey, T. (Contributor), GitHub, <span class="date">2018</span></p><p class="links-doi"><a onclick="window.open(this.href, '_blank','noopener,noreferrer'); return false;" href="https://github.com/openvar/variantValidator" class="link"><span>https://github.com/openvar/variantValidator</span></a></p><p class="type"><span class="type_family">Dataset</span></p></div> <div class="rendering rendering_dataset rendering_documentsattachedportalrendererng rendering_dataset_documentsattachedportalrendererng"></div> </div> </li> <li class="list-result-item"> <div class="result-container"> <div class="rendering rendering_dataset rendering_short rendering_dataset_short"><h3 class="title"><a rel="DataSet" href="https://research.manchester.ac.uk/en/datasets/variantvalidator-rest-api" class="link"><span>VariantValidator REST API</span></a></h3><p><a rel="Person" href="https://research.manchester.ac.uk/en/persons/peter.j.freeman" class="link person"><span>Causey-Freeman, P.</span></a> (Creator), University of Leicester, <span class="date">2018</span></p><p class="links-doi"><a onclick="window.open(this.href, '_blank','noopener,noreferrer'); return false;" href="http://rest.variantvalidator.org" class="link"><span>http://rest.variantvalidator.org</span></a></p><p class="type"><span class="type_family">Dataset</span></p></div> <div class="rendering rendering_dataset rendering_documentsattachedportalrendererng rendering_dataset_documentsattachedportalrendererng"></div> </div> </li> <li class="list-result-item"> <div class="result-container"> <div class="rendering rendering_dataset rendering_short rendering_dataset_short"><h3 class="title"><a rel="DataSet" href="https://research.manchester.ac.uk/en/datasets/variantvalidatororg" class="link"><span>variantvalidator.org</span></a></h3><p><a rel="Person" href="https://research.manchester.ac.uk/en/persons/peter.j.freeman" class="link person"><span>Causey-Freeman, P.</span></a> (Creator) & Dalgleish, R. (Other), University of Leicester, <span class="date">2015</span></p><p class="links-doi"><a onclick="window.open(this.href, '_blank','noopener,noreferrer'); return false;" href="https://variantvalidator.org/" class="link"><span>https://variantvalidator.org/</span></a></p><p class="type"><span class="type_family">Dataset</span></p></div> <div class="rendering rendering_dataset rendering_documentsattachedportalrendererng rendering_dataset_documentsattachedportalrendererng"></div> </div> </li> </ul> </div> <div class="footer"> </div> </div> </div> <div class="page-section content-relation-section person-clippings"> <div class="container"> <div class="header"> <h2 class="section-title" id="related-clippings-title"> <i class="icon icon-clippings" aria-hidden="true"></i> <span class="title"> Press/Media </span> </h2> </div> <div class="relation-list relation-list-clippings"> <ul class="list-results"> <li class="list-result-item"> <div class="result-container"> <div class="rendering rendering_clipping rendering_short rendering_clipping_short"><h3 class="title"><a rel="Clipping" href="https://research.manchester.ac.uk/en/clippings/cutting-corners-results-in-rare-genetic-diseases-being-undiagnose" class="link"><span>Cutting corners results in rare genetic diseases being undiagnosed, say scientists</span></a></h3><p><a rel="Person" href="https://research.manchester.ac.uk/en/persons/peter.j.freeman" class="link person"><span>Freeman, P.</span></a></p><p><span class="date">2/10/24</span></p><p class="clippingShortRendererReferencesCount">1 Media contribution</p><p class="type"><span class="type_family">Press/Media<span class="type_family_sep">: </span></span><span class="type_classification">Other</span></p></div> </div> </li> <li class="list-result-item"> <div class="result-container"> <div class="rendering rendering_clipping rendering_short rendering_clipping_short"><h3 class="title"><a rel="Clipping" href="https://research.manchester.ac.uk/en/clippings/international-recognition-for-new-digital-teaching-methods" class="link"><span>International recognition for new digital teaching methods</span></a></h3><p><a rel="Person" href="https://research.manchester.ac.uk/en/persons/peter.j.freeman" class="link person"><span>Causey-Freeman, P.</span></a></p><p><span class="date">27/07/20</span></p><p class="clippingShortRendererReferencesCount">1 Media contribution</p><p class="type"><span class="type_family">Press/Media<span class="type_family_sep">: </span></span><span class="type_classification">Blogs and social media</span></p></div> </div> </li> </ul> </div> <div class="footer"> </div> </div> </div> </section> <div class="share-box"> <ul> <li class="icon-share"></li> <li><a aria-label="Share on Facebook" href="https://www.facebook.com/sharer.php?u=https://research.manchester.ac.uk/en/persons/peter.j.freeman%3Futm_source%3Dfacebook%26utm_medium%3Dsocial%26utm_campaign%3Dsharelink&p[summary]=Check+out+this+researcher+at+Research+Explorer+The+University+of+Manchester%3A+Peter+Freeman" class="icon-facebook" onclick="window.location.origin('https://www.facebook.com/sharer.php?u=https://research.manchester.ac.uk/en/persons/peter.j.freeman%3Futm_source%3Dfacebook%26utm_medium%3Dsocial%26utm_campaign%3Dsharelink&p[summary]=Check+out+this+researcher+at+Research+Explorer+The+University+of+Manchester%3A+Peter+Freeman', 'Facebook', 'width=600,height=600,scrollbars=no,resizable=no'); 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