{"id":4309,"date":"2025-09-09T05:26:16","date_gmt":"2025-09-09T05:26:16","guid":{"rendered":"https:\/\/www.newsbeep.com\/il\/4309\/"},"modified":"2025-09-09T05:26:16","modified_gmt":"2025-09-09T05:26:16","slug":"the-platinum-pedigree-a-long-read-benchmark-for-genetic-variants","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/il\/4309\/","title":{"rendered":"The Platinum Pedigree: a long-read benchmark for genetic variants"},"content":{"rendered":"<p class=\"c-article-references__text\" id=\"ref-CR1\">Gonzaga-Jauregui, C., Lupski, J. R. &amp; Gibbs, R. A. Human genome sequencing in health and disease. Annu. Rev. Med. 63, 35\u201361 (2012).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1146\/annurev-med-051010-162644\" data-track-item_id=\"10.1146\/annurev-med-051010-162644\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1146%2Fannurev-med-051010-162644\" aria-label=\"Article reference 1\" data-doi=\"10.1146\/annurev-med-051010-162644\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC38XisleksL8%3D\" aria-label=\"CAS reference 1\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=22248320\" aria-label=\"PubMed reference 1\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3656720\" aria-label=\"PubMed Central reference 1\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 1\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Human%20genome%20sequencing%20in%20health%20and%20disease&amp;journal=Annu.%20Rev.%20Med.&amp;doi=10.1146%2Fannurev-med-051010-162644&amp;volume=63&amp;pages=35-61&amp;publication_year=2012&amp;author=Gonzaga-Jauregui%2CC&amp;author=Lupski%2CJR&amp;author=Gibbs%2CRA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR2\">Talkowski, M. E. et al. Clinical diagnosis by whole-genome sequencing of a prenatal sample. N. Engl. J. Med. 367, 2226\u20132232 (2012).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1056\/NEJMoa1208594\" data-track-item_id=\"10.1056\/NEJMoa1208594\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1056%2FNEJMoa1208594\" aria-label=\"Article reference 2\" data-doi=\"10.1056\/NEJMoa1208594\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC38XhvVakt7rN\" aria-label=\"CAS reference 2\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=23215558\" aria-label=\"PubMed reference 2\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3579222\" aria-label=\"PubMed Central reference 2\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 2\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Clinical%20diagnosis%20by%20whole-genome%20sequencing%20of%20a%20prenatal%20sample&amp;journal=N.%20Engl.%20J.%20Med.&amp;doi=10.1056%2FNEJMoa1208594&amp;volume=367&amp;pages=2226-2232&amp;publication_year=2012&amp;author=Talkowski%2CME\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR3\">Roach, J. C. et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 328, 636\u2013639 (2010).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1126\/science.1186802\" data-track-item_id=\"10.1126\/science.1186802\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1126%2Fscience.1186802\" aria-label=\"Article reference 3\" data-doi=\"10.1126\/science.1186802\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC3cXlt1Crt7o%3D\" aria-label=\"CAS reference 3\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=20220176\" aria-label=\"PubMed reference 3\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3037280\" aria-label=\"PubMed Central reference 3\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 3\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Analysis%20of%20genetic%20inheritance%20in%20a%20family%20quartet%20by%20whole-genome%20sequencing&amp;journal=Science&amp;doi=10.1126%2Fscience.1186802&amp;volume=328&amp;pages=636-639&amp;publication_year=2010&amp;author=Roach%2CJC\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR4\">Marshall, C. R. et al. Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease. NPJ Genom. Med. 5, 47 (2020).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41525-020-00154-9\" data-track-item_id=\"10.1038\/s41525-020-00154-9\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41525-020-00154-9\" aria-label=\"Article reference 4\" data-doi=\"10.1038\/s41525-020-00154-9\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=33110627\" aria-label=\"PubMed reference 4\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC7585436\" aria-label=\"PubMed Central reference 4\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 4\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Best%20practices%20for%20the%20analytical%20validation%20of%20clinical%20whole-genome%20sequencing%20intended%20for%20the%20diagnosis%20of%20germline%20disease&amp;journal=NPJ%20Genom.%20Med.&amp;doi=10.1038%2Fs41525-020-00154-9&amp;volume=5&amp;publication_year=2020&amp;author=Marshall%2CCR\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR5\">Zook, J. M. et al. Extensive sequencing of seven human genomes to characterize benchmark reference materials. Sci. Data 3, 160025 (2016).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/sdata.2016.25\" data-track-item_id=\"10.1038\/sdata.2016.25\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fsdata.2016.25\" aria-label=\"Article reference 5\" data-doi=\"10.1038\/sdata.2016.25\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC28XpvVWrtLk%3D\" aria-label=\"CAS reference 5\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=27271295\" aria-label=\"PubMed reference 5\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4896128\" aria-label=\"PubMed Central reference 5\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 5\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Extensive%20sequencing%20of%20seven%20human%20genomes%20to%20characterize%20benchmark%20reference%20materials&amp;journal=Sci.%20Data&amp;doi=10.1038%2Fsdata.2016.25&amp;volume=3&amp;publication_year=2016&amp;author=Zook%2CJM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR6\">Wagner, J. et al. Benchmarking challenging small variants with linked and long reads. Cell Genom. 2, 100128 (2022).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1016\/j.xgen.2022.100128\" data-track-item_id=\"10.1016\/j.xgen.2022.100128\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1016%2Fj.xgen.2022.100128\" aria-label=\"Article reference 6\" data-doi=\"10.1016\/j.xgen.2022.100128\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB38XhtFCru7fM\" aria-label=\"CAS reference 6\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=36452119\" aria-label=\"PubMed reference 6\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC9706577\" aria-label=\"PubMed Central reference 6\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 6\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Benchmarking%20challenging%20small%20variants%20with%20linked%20and%20long%20reads&amp;journal=Cell%20Genom.&amp;doi=10.1016%2Fj.xgen.2022.100128&amp;volume=2&amp;publication_year=2022&amp;author=Wagner%2CJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR7\">Eberle, M. A. et al. A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree. Genome Res. 27, 157\u2013164 (2017).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1101\/gr.210500.116\" data-track-item_id=\"10.1101\/gr.210500.116\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1101%2Fgr.210500.116\" aria-label=\"Article reference 7\" data-doi=\"10.1101\/gr.210500.116\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC2sXosVKjsL0%3D\" aria-label=\"CAS reference 7\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=27903644\" aria-label=\"PubMed reference 7\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5204340\" aria-label=\"PubMed Central reference 7\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 7\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=A%20reference%20data%20set%20of%205.4%20million%20phased%20human%20variants%20validated%20by%20genetic%20inheritance%20from%20sequencing%20a%20three-generation%2017-member%20pedigree&amp;journal=Genome%20Res.&amp;doi=10.1101%2Fgr.210500.116&amp;volume=27&amp;pages=157-164&amp;publication_year=2017&amp;author=Eberle%2CMA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR8\">English, A. C. et al. Analysis and benchmarking of small and large genomic variants across tandem repeats. Nat. Biotechnol. 43, 431\u2013442 (2025).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41587-024-02225-z\" data-track-item_id=\"10.1038\/s41587-024-02225-z\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41587-024-02225-z\" aria-label=\"Article reference 8\" data-doi=\"10.1038\/s41587-024-02225-z\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2cXpsFGmsbY%3D\" aria-label=\"CAS reference 8\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=38671154\" aria-label=\"PubMed reference 8\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 8\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Analysis%20and%20benchmarking%20of%20small%20and%20large%20genomic%20variants%20across%20tandem%20repeats&amp;journal=Nat.%20Biotechnol.&amp;doi=10.1038%2Fs41587-024-02225-z&amp;volume=43&amp;pages=431-442&amp;publication_year=2025&amp;author=English%2CAC\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR9\">Majidian, S., Agustinho, D. P., Chin, C.-S., Sedlazeck, F. J. &amp; Mahmoud, M. Genomic variant benchmark: if you cannot measure it, you cannot improve it. Genome Biol. 24, 221 (2023).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"noopener nofollow\" data-track-label=\"10.1186\/s13059-023-03061-1\" data-track-item_id=\"10.1186\/s13059-023-03061-1\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/link.springer.com\/doi\/10.1186\/s13059-023-03061-1\" aria-label=\"Article reference 9\" data-doi=\"10.1186\/s13059-023-03061-1\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=37798733\" aria-label=\"PubMed reference 9\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC10552390\" aria-label=\"PubMed Central reference 9\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 9\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Genomic%20variant%20benchmark%3A%20if%20you%20cannot%20measure%20it%2C%20you%20cannot%20improve%20it&amp;journal=Genome%20Biol.&amp;doi=10.1186%2Fs13059-023-03061-1&amp;volume=24&amp;publication_year=2023&amp;author=Majidian%2CS&amp;author=Agustinho%2CDP&amp;author=Chin%2CC-S&amp;author=Sedlazeck%2CFJ&amp;author=Mahmoud%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR10\">Poplin, R. et al. A universal SNP and small-indel variant caller using deep neural networks. Nat. Biotechnol. 36, 983\u2013987 (2018).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/nbt.4235\" data-track-item_id=\"10.1038\/nbt.4235\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fnbt.4235\" aria-label=\"Article reference 10\" data-doi=\"10.1038\/nbt.4235\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC1cXhslOhtbjE\" aria-label=\"CAS reference 10\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=30247488\" aria-label=\"PubMed reference 10\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 10\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=A%20universal%20SNP%20and%20small-indel%20variant%20caller%20using%20deep%20neural%20networks&amp;journal=Nat.%20Biotechnol.&amp;doi=10.1038%2Fnbt.4235&amp;volume=36&amp;pages=983-987&amp;publication_year=2018&amp;author=Poplin%2CR\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR11\">Porubsky, D. et al. Human de novo mutation rates from a four-generation pedigree reference. Nature 643, 427\u2013436 (2025).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41586-025-08922-2\" data-track-item_id=\"10.1038\/s41586-025-08922-2\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41586-025-08922-2\" aria-label=\"Article reference 11\" data-doi=\"10.1038\/s41586-025-08922-2\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2MXhs1ansrnE\" aria-label=\"CAS reference 11\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=40269156\" aria-label=\"PubMed reference 11\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC12240836\" aria-label=\"PubMed Central reference 11\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 11\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Human%20de%20novo%20mutation%20rates%20from%20a%20four-generation%20pedigree%20reference&amp;journal=Nature&amp;doi=10.1038%2Fs41586-025-08922-2&amp;volume=643&amp;pages=427-436&amp;publication_year=2025&amp;author=Porubsky%2CD\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR12\">Kong, A. et al. A high-resolution recombination map of the human genome. Nat. Genet. 31, 241\u2013247 (2002).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/ng917\" data-track-item_id=\"10.1038\/ng917\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fng917\" aria-label=\"Article reference 12\" data-doi=\"10.1038\/ng917\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BD38XkvVGmtLc%3D\" aria-label=\"CAS reference 12\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=12053178\" aria-label=\"PubMed reference 12\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 12\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=A%20high-resolution%20recombination%20map%20of%20the%20human%20genome&amp;journal=Nat.%20Genet.&amp;doi=10.1038%2Fng917&amp;volume=31&amp;pages=241-247&amp;publication_year=2002&amp;author=Kong%2CA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR13\">Fang, H. et al. Reducing INDEL calling errors in whole genome and exome sequencing data. Genome Med. 6, 89 (2014).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"noopener nofollow\" data-track-label=\"10.1186\/s13073-014-0089-z\" data-track-item_id=\"10.1186\/s13073-014-0089-z\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/link.springer.com\/doi\/10.1186\/s13073-014-0089-z\" aria-label=\"Article reference 13\" data-doi=\"10.1186\/s13073-014-0089-z\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=25426171\" aria-label=\"PubMed reference 13\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4240813\" aria-label=\"PubMed Central reference 13\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 13\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Reducing%20INDEL%20calling%20errors%20in%20whole%20genome%20and%20exome%20sequencing%20data&amp;journal=Genome%20Med.&amp;doi=10.1186%2Fs13073-014-0089-z&amp;volume=6&amp;publication_year=2014&amp;author=Fang%2CH\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR14\">Olson, N. D. et al. Variant calling and benchmarking in an era of complete human genome sequences. Nat. Rev. Genet. 24, 464\u2013483 (2023).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41576-023-00590-0\" data-track-item_id=\"10.1038\/s41576-023-00590-0\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41576-023-00590-0\" aria-label=\"Article reference 14\" data-doi=\"10.1038\/s41576-023-00590-0\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3sXnvFems7o%3D\" aria-label=\"CAS reference 14\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=37059810\" aria-label=\"PubMed reference 14\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 14\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Variant%20calling%20and%20benchmarking%20in%20an%20era%20of%20complete%20human%20genome%20sequences&amp;journal=Nat.%20Rev.%20Genet.&amp;doi=10.1038%2Fs41576-023-00590-0&amp;volume=24&amp;pages=464-483&amp;publication_year=2023&amp;author=Olson%2CND\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR15\">Audano, P. A. et al. Characterizing the major structural variant alleles of the human genome. Cell 176, 663\u2013675 (2019).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1016\/j.cell.2018.12.019\" data-track-item_id=\"10.1016\/j.cell.2018.12.019\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1016%2Fj.cell.2018.12.019\" aria-label=\"Article reference 15\" data-doi=\"10.1016\/j.cell.2018.12.019\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC1MXhsVartr0%3D\" aria-label=\"CAS reference 15\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=30661756\" aria-label=\"PubMed reference 15\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6438697\" aria-label=\"PubMed Central reference 15\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 15\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Characterizing%20the%20major%20structural%20variant%20alleles%20of%20the%20human%20genome&amp;journal=Cell&amp;doi=10.1016%2Fj.cell.2018.12.019&amp;volume=176&amp;pages=663-675&amp;publication_year=2019&amp;author=Audano%2CPA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR16\">Sudmant, P. H. et al. An integrated map of structural variation in 2,504 human genomes. Nature 526, 75\u201381 (2015).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/nature15394\" data-track-item_id=\"10.1038\/nature15394\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fnature15394\" aria-label=\"Article reference 16\" data-doi=\"10.1038\/nature15394\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC2MXhs1SitLrE\" aria-label=\"CAS reference 16\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=26432246\" aria-label=\"PubMed reference 16\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4617611\" aria-label=\"PubMed Central reference 16\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 16\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=An%20integrated%20map%20of%20structural%20variation%20in%202%2C504%20human%20genomes&amp;journal=Nature&amp;doi=10.1038%2Fnature15394&amp;volume=526&amp;pages=75-81&amp;publication_year=2015&amp;author=Sudmant%2CPH\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR17\">Schloissnig, S. et al. Long-read sequencing and structural variant characterization in 1,019 samples from the 1000 Genomes Project. Preprint at <a href=\"https:\/\/doi.org\/10.1101\/2024.04.18.590093\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"10.1101\/2024.04.18.590093\" rel=\"nofollow noopener\" target=\"_blank\">https:\/\/doi.org\/10.1101\/2024.04.18.590093<\/a> (2024).<\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR18\">Ebert, P. et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, eabf7117 (2021).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1126\/science.abf7117\" data-track-item_id=\"10.1126\/science.abf7117\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1126%2Fscience.abf7117\" aria-label=\"Article reference 18\" data-doi=\"10.1126\/science.abf7117\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3MXotFGluro%3D\" aria-label=\"CAS reference 18\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=33632895\" aria-label=\"PubMed reference 18\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8026704\" aria-label=\"PubMed Central reference 18\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 18\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Haplotype-resolved%20diverse%20human%20genomes%20and%20integrated%20analysis%20of%20structural%20variation&amp;journal=Science&amp;doi=10.1126%2Fscience.abf7117&amp;volume=372&amp;publication_year=2021&amp;author=Ebert%2CP\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR19\">Gustafson, J. A. et al. High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation. Genome Res. 34, 2061\u20132073 (2024).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1101\/gr.279273.124\" data-track-item_id=\"10.1101\/gr.279273.124\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1101%2Fgr.279273.124\" aria-label=\"Article reference 19\" data-doi=\"10.1101\/gr.279273.124\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2cXislCqtrrK\" aria-label=\"CAS reference 19\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=39358015\" aria-label=\"PubMed reference 19\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC11610458\" aria-label=\"PubMed Central reference 19\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 19\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=High-coverage%20nanopore%20sequencing%20of%20samples%20from%20the%201000%20Genomes%20Project%20to%20build%20a%20comprehensive%20catalog%20of%20human%20genetic%20variation&amp;journal=Genome%20Res.&amp;doi=10.1101%2Fgr.279273.124&amp;volume=34&amp;pages=2061-2073&amp;publication_year=2024&amp;author=Gustafson%2CJA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR20\">Depienne, C. &amp; Mandel, J.-L. 30\u2009years of repeat expansion disorders: what have we learned and what are the remaining challenges? Am. J. Hum. Genet. 108, 764\u2013785 (2021).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1016\/j.ajhg.2021.03.011\" data-track-item_id=\"10.1016\/j.ajhg.2021.03.011\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1016%2Fj.ajhg.2021.03.011\" aria-label=\"Article reference 20\" data-doi=\"10.1016\/j.ajhg.2021.03.011\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3MXot1Git7s%3D\" aria-label=\"CAS reference 20\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=33811808\" aria-label=\"PubMed reference 20\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8205997\" aria-label=\"PubMed Central reference 20\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 20\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=30%E2%80%89years%20of%20repeat%20expansion%20disorders%3A%20what%20have%20we%20learned%20and%20what%20are%20the%20remaining%20challenges%3F&amp;journal=Am.%20J.%20Hum.%20Genet.&amp;doi=10.1016%2Fj.ajhg.2021.03.011&amp;volume=108&amp;pages=764-785&amp;publication_year=2021&amp;author=Depienne%2CC&amp;author=Mandel%2CJ-L\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR21\">Dolzhenko, E. et al. Characterization and visualization of tandem repeats at genome scale. Nat. Biotechnol. 42, 1606\u20131614 (2024).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41587-023-02057-3\" data-track-item_id=\"10.1038\/s41587-023-02057-3\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41587-023-02057-3\" aria-label=\"Article reference 21\" data-doi=\"10.1038\/s41587-023-02057-3\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2cXmtFagsg%3D%3D\" aria-label=\"CAS reference 21\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=38168995\" aria-label=\"PubMed reference 21\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC11921810\" aria-label=\"PubMed Central reference 21\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 21\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Characterization%20and%20visualization%20of%20tandem%20repeats%20at%20genome%20scale&amp;journal=Nat.%20Biotechnol.&amp;doi=10.1038%2Fs41587-023-02057-3&amp;volume=42&amp;pages=1606-1614&amp;publication_year=2024&amp;author=Dolzhenko%2CE\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR22\">Chen, X. et al. Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing. Am. J. Hum. Genet. 110, 240\u2013250 (2023).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1016\/j.ajhg.2023.01.001\" data-track-item_id=\"10.1016\/j.ajhg.2023.01.001\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1016%2Fj.ajhg.2023.01.001\" aria-label=\"Article reference 22\" data-doi=\"10.1016\/j.ajhg.2023.01.001\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3sXhsVyls70%3D\" aria-label=\"CAS reference 22\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=36669496\" aria-label=\"PubMed reference 22\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC9943720\" aria-label=\"PubMed Central reference 22\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 22\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Comprehensive%20SMN1%20and%20SMN2%20profiling%20for%20spinal%20muscular%20atrophy%20analysis%20using%20long-read%20PacBio%20HiFi%20sequencing&amp;journal=Am.%20J.%20Hum.%20Genet.&amp;doi=10.1016%2Fj.ajhg.2023.01.001&amp;volume=110&amp;pages=240-250&amp;publication_year=2023&amp;author=Chen%2CX\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR23\">Chen, X. et al. Genome-wide profiling of highly similar paralogous genes using HiFi sequencing. Nat. Commun. 16, 2340 (2025).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41467-025-57505-2\" data-track-item_id=\"10.1038\/s41467-025-57505-2\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41467-025-57505-2\" aria-label=\"Article reference 23\" data-doi=\"10.1038\/s41467-025-57505-2\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2MXmtlynsLY%3D\" aria-label=\"CAS reference 23\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=40057485\" aria-label=\"PubMed reference 23\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC11890787\" aria-label=\"PubMed Central reference 23\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 23\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Genome-wide%20profiling%20of%20highly%20similar%20paralogous%20genes%20using%20HiFi%20sequencing&amp;journal=Nat.%20Commun.&amp;doi=10.1038%2Fs41467-025-57505-2&amp;volume=16&amp;publication_year=2025&amp;author=Chen%2CX\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR24\">Holt, J. M. et al. StarPhase: comprehensive phase-aware pharmacogenomic diplotyper for long-read sequencing data. Preprint at <a href=\"https:\/\/doi.org\/10.1101\/2024.12.10.627527\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"10.1101\/2024.12.10.627527\" rel=\"nofollow noopener\" target=\"_blank\">https:\/\/doi.org\/10.1101\/2024.12.10.627527<\/a> (2024).<\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR25\">Weisburd, B. et al. Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases. Preprint at <a href=\"https:\/\/doi.org\/10.1101\/2024.10.04.615514\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"10.1101\/2024.10.04.615514\" rel=\"nofollow noopener\" target=\"_blank\">https:\/\/doi.org\/10.1101\/2024.10.04.615514<\/a> (2024).<\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR26\">Dwarshuis, N. et al. The GIAB genomic stratifications resource for human reference genomes. Nat. Commun. 15, 9029 (2024).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41467-024-53260-y\" data-track-item_id=\"10.1038\/s41467-024-53260-y\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41467-024-53260-y\" aria-label=\"Article reference 26\" data-doi=\"10.1038\/s41467-024-53260-y\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2cXit1OqsbbM\" aria-label=\"CAS reference 26\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=39424793\" aria-label=\"PubMed reference 26\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC11489684\" aria-label=\"PubMed Central reference 26\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 26\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=The%20GIAB%20genomic%20stratifications%20resource%20for%20human%20reference%20genomes&amp;journal=Nat.%20Commun.&amp;doi=10.1038%2Fs41467-024-53260-y&amp;volume=15&amp;publication_year=2024&amp;author=Dwarshuis%2CN\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR27\">Smolka, M. et al. Detection of mosaic and population-level structural variants with Sniffles2. Nat. Biotechnol. 42, 1571\u20131580 (2024).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41587-023-02024-y\" data-track-item_id=\"10.1038\/s41587-023-02024-y\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41587-023-02024-y\" aria-label=\"Article reference 27\" data-doi=\"10.1038\/s41587-023-02024-y\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2cXmtFahsQ%3D%3D\" aria-label=\"CAS reference 27\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=38168980\" aria-label=\"PubMed reference 27\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC11217151\" aria-label=\"PubMed Central reference 27\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 27\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Detection%20of%20mosaic%20and%20population-level%20structural%20variants%20with%20Sniffles2&amp;journal=Nat.%20Biotechnol.&amp;doi=10.1038%2Fs41587-023-02024-y&amp;volume=42&amp;pages=1571-1580&amp;publication_year=2024&amp;author=Smolka%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR28\">Saunders, C. T. et al. Sawfish: improving long-read structural variant discovery and genotyping with local haplotype modeling. Bioinformatics 41, btaf136 (2025).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1093\/bioinformatics\/btaf136\" data-track-item_id=\"10.1093\/bioinformatics\/btaf136\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1093%2Fbioinformatics%2Fbtaf136\" aria-label=\"Article reference 28\" data-doi=\"10.1093\/bioinformatics\/btaf136\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2MXpvVGgtL0%3D\" aria-label=\"CAS reference 28\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=40203061\" aria-label=\"PubMed reference 28\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC12000528\" aria-label=\"PubMed Central reference 28\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 28\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Sawfish%3A%20improving%20long-read%20structural%20variant%20discovery%20and%20genotyping%20with%20local%20haplotype%20modeling&amp;journal=Bioinformatics&amp;doi=10.1093%2Fbioinformatics%2Fbtaf136&amp;volume=41&amp;publication_year=2025&amp;author=Saunders%2CCT\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR29\">Garrison, E. et al. Building pangenome graphs. Nat. Methods 21, 2008\u20132012 (2024).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41592-024-02430-3\" data-track-item_id=\"10.1038\/s41592-024-02430-3\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41592-024-02430-3\" aria-label=\"Article reference 29\" data-doi=\"10.1038\/s41592-024-02430-3\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2cXitlant77L\" aria-label=\"CAS reference 29\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=39433878\" aria-label=\"PubMed reference 29\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 29\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Building%20pangenome%20graphs&amp;journal=Nat.%20Methods&amp;doi=10.1038%2Fs41592-024-02430-3&amp;volume=21&amp;pages=2008-2012&amp;publication_year=2024&amp;author=Garrison%2CE\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<p class=\"c-article-references__text\" id=\"ref-CR30\">Rautiainen, M. et al. Telomere-to-telomere assembly of diploid chromosomes with Verkko. Nat. Biotechnol. 41, 1474\u20131482 (2023).<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41587-023-01662-6\" data-track-item_id=\"10.1038\/s41587-023-01662-6\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41587-023-01662-6\" aria-label=\"Article reference 30\" data-doi=\"10.1038\/s41587-023-01662-6\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3sXjsVKmtb0%3D\" aria-label=\"CAS reference 30\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=36797493\" aria-label=\"PubMed reference 30\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC10427740\" aria-label=\"PubMed Central reference 30\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 30\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Telomere-to-telomere%20assembly%20of%20diploid%20chromosomes%20with%20Verkko&amp;journal=Nat.%20Biotechnol.&amp;doi=10.1038%2Fs41587-023-01662-6&amp;volume=41&amp;pages=1474-1482&amp;publication_year=2023&amp;author=Rautiainen%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n","protected":false},"excerpt":{"rendered":"Gonzaga-Jauregui, C., Lupski, J. R. &amp; Gibbs, R. A. Human genome sequencing in health and disease. Annu. Rev.&hellip;\n","protected":false},"author":2,"featured_media":4310,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[25],"tags":[4682,4680,4679,4681,5375,3181,5376,377,3664,5015,85,46,3183,4683,141],"class_list":{"0":"post-4309","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-bioinformatics","9":"tag-biological-microscopy","10":"tag-biological-techniques","11":"tag-biomedical-engineering-biotechnology","12":"tag-dna-sequencing","13":"tag-general","14":"tag-genetic-databases","15":"tag-genetics","16":"tag-genomics","17":"tag-haplotypes","18":"tag-il","19":"tag-israel","20":"tag-life-sciences","21":"tag-proteomics","22":"tag-science"},"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/posts\/4309","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/comments?post=4309"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/posts\/4309\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/media\/4310"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/media?parent=4309"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/categories?post=4309"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/tags?post=4309"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}