{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T09:49:54Z","timestamp":1747216194917,"version":"3.40.5"},"reference-count":0,"publisher":"IOS Press","isbn-type":[{"type":"electronic","value":"9781643685335"}],"license":[{"start":{"date-parts":[[2024,8,22]],"date-time":"2024-08-22T00:00:00Z","timestamp":1724284800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,22]]},"abstract":"<jats:p>Assessing the pathogenicity of genetic variants is a critical aspect of genomic medicine and precision healthcare. Over the last decades, the identification of genetic variants and their characterization has become simpler (advent of high-throughput sequencing technologies, analysis, and visualization support tools, etc.). However, the quality of assessments to distinguish benign from pathogenic variants is critical to inform clinical decision-making and improve patient outcomes. In this article, we investigate the relationships using correlation tests between the characterization of genetic variants in the literature and their pathogenicity scores computed by two state-of-the-art assessment tools (SIFT and PolyPhen-2).<\/jats:p>","DOI":"10.3233\/shti240747","type":"book-chapter","created":{"date-parts":[[2024,8,23]],"date-time":"2024-08-23T10:33:58Z","timestamp":1724409238000},"source":"Crossref","is-referenced-by-count":0,"title":["Comparing Sequence-Based and Literature-Based Pathogenicity Scoring Methods for Human Variants"],"prefix":"10.3233","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9614-9293","authenticated-orcid":false,"given":"Luc","family":"Mottin","sequence":"first","affiliation":[{"name":"HES-SO\/HEG Gen\u00e8ve, Information Sciences, Geneva, Switzerland"},{"name":"SIB Text Mining, Swiss Institute of Bioinformatics, Geneva, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1272-7640","authenticated-orcid":false,"given":"Nona","family":"Naderi","sequence":"additional","affiliation":[{"name":"Department of Computer Science, Universit\u00e9 Paris-Saclay, CNRS, Laboratoire Interdisciplinaire des Sciences du Num\u00e9rique, Orsay, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0080-9451","authenticated-orcid":false,"given":"Ana\u00efs","family":"Mottaz","sequence":"additional","affiliation":[{"name":"HES-SO\/HEG Gen\u00e8ve, Information Sciences, Geneva, Switzerland"},{"name":"SIB Text Mining, Swiss Institute of Bioinformatics, Geneva, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7023-1045","authenticated-orcid":false,"given":"Pierre-Andr\u00e9","family":"Michel","sequence":"additional","affiliation":[{"name":"HES-SO\/HEG Gen\u00e8ve, 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Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0979-3401","authenticated-orcid":false,"given":"Morris","family":"Swertz","sequence":"additional","affiliation":[{"name":"University of Groningen, University Medical Centre Groningen, Groningen, Department of Genetics, Genomics Coordination Centre, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9817-9982","authenticated-orcid":false,"given":"Andrew","family":"Stubbs","sequence":"additional","affiliation":[{"name":"Department of Pathology and Clinical Bioinformatics, Erasmus University Medical Centre, Rotterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9118-5762","authenticated-orcid":false,"given":"Emilie","family":"Pasche","sequence":"additional","affiliation":[{"name":"HES-SO\/HEG Gen\u00e8ve, Information Sciences, Geneva, Switzerland"},{"name":"SIB Text Mining, Swiss Institute of Bioinformatics, Geneva, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9809-7741","authenticated-orcid":false,"given":"Julien","family":"Gobeill","sequence":"additional","affiliation":[{"name":"HES-SO\/HEG Gen\u00e8ve, Information Sciences, Geneva, Switzerland"},{"name":"SIB Text Mining, Swiss Institute of Bioinformatics, Geneva, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3374-2962","authenticated-orcid":false,"given":"Patrick","family":"Ruch","sequence":"additional","affiliation":[{"name":"HES-SO\/HEG Gen\u00e8ve, Information Sciences, Geneva, Switzerland"},{"name":"SIB Text Mining, Swiss Institute of Bioinformatics, Geneva, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7437","container-title":["Studies in Health Technology and Informatics","Digital Health and Informatics Innovations for Sustainable Health Care Systems"],"original-title":[],"link":[{"URL":"https:\/\/ebooks.iospress.nl\/pdf\/doi\/10.3233\/SHTI240747","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,23]],"date-time":"2024-08-23T10:33:58Z","timestamp":1724409238000},"score":1,"resource":{"primary":{"URL":"https:\/\/ebooks.iospress.nl\/doi\/10.3233\/SHTI240747"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,22]]},"ISBN":["9781643685335"],"references-count":0,"URL":"https:\/\/doi.org\/10.3233\/shti240747","relation":{},"ISSN":["0926-9630","1879-8365"],"issn-type":[{"type":"print","value":"0926-9630"},{"type":"electronic","value":"1879-8365"}],"subject":[],"published":{"date-parts":[[2024,8,22]]}}}