{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,5,26]],"date-time":"2022-05-26T12:11:22Z","timestamp":1653567082197},"reference-count":0,"publisher":"IOS Press","license":[{"start":{"date-parts":[[2022,5,25]],"date-time":"2022-05-25T00:00:00Z","timestamp":1653436800000},"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":[[2022,5,25]]},"abstract":"<jats:p>The importance of genomic data for health is rapidly growing but accessing and gathering information about variants from different sources is hindered by highly heterogeneous representations of variants, as outlined by clinical associations (AMP\/ASCO\/CAP) in their recommendations. To enable a smooth and effective retrieval of variant-containing documents from different resources, we developed a tool (https:\/\/goldorak.hesge.ch\/synvar\/) that generates for any given SNP \u2013 including variant not present in existing databases \u2013 its corresponding description at the genome, transcript and protein levels. It provides variant descriptions in the HGVS format as well as in many non-standard formats found in the literature along with database identifiers. We present the SynVar service and evaluate its impact on the recall of a genomic variant curation-support service. Using SynVar to search variants in the literature enables to increase the recall by +133.8% without a strong impact on precision (i.e. 93%).<\/jats:p>","DOI":"10.3233\/shti220603","type":"book-chapter","created":{"date-parts":[[2022,5,25]],"date-time":"2022-05-25T12:17:50Z","timestamp":1653481070000},"source":"Crossref","is-referenced-by-count":0,"title":["Designing an Optimal Expansion Method to Improve the Recall of a Genomic Variant Curation-Support Service"],"prefix":"10.3233","author":[{"given":"Ana\u00efs","family":"Mottaz","sequence":"first","affiliation":[{"name":"HES-SO \/ HEG Geneva, Information Sciences, Geneva, Switzerland"},{"name":"SIB Swiss Institute of Bioinformatics, Geneva, Switzerland"}]},{"given":"Emilie","family":"Pasche","sequence":"additional","affiliation":[{"name":"HES-SO \/ HEG Geneva, Information Sciences, Geneva, Switzerland"},{"name":"SIB Swiss Institute of Bioinformatics, Geneva, Switzerland"}]},{"given":"Pierre-Andr\u00e9","family":"Michel","sequence":"additional","affiliation":[{"name":"HES-SO \/ HEG Geneva, Information Sciences, Geneva, Switzerland"},{"name":"SIB Swiss Institute of Bioinformatics, Geneva, Switzerland"}]},{"given":"Luc","family":"Mottin","sequence":"additional","affiliation":[{"name":"HES-SO \/ HEG Geneva, Information Sciences, Geneva, Switzerland"},{"name":"SIB Swiss Institute of Bioinformatics, Geneva, Switzerland"}]},{"given":"Douglas","family":"Teodoro","sequence":"additional","affiliation":[{"name":"HES-SO \/ HEG Geneva, Information Sciences, Geneva, Switzerland"},{"name":"SIB Swiss Institute of Bioinformatics, Geneva, Switzerland"},{"name":"Department of Radiology and Medical Informatics, University of Geneva, Geneva, Switzerland"}]},{"given":"Patrick","family":"Ruch","sequence":"additional","affiliation":[{"name":"HES-SO \/ HEG Geneva, Information Sciences, Geneva, Switzerland"},{"name":"SIB Swiss Institute of Bioinformatics, Geneva, Switzerland"}]}],"member":"7437","container-title":["Studies in Health Technology and Informatics","Challenges of Trustable AI and Added-Value on Health"],"original-title":[],"link":[{"URL":"https:\/\/ebooks.iospress.nl\/pdf\/doi\/10.3233\/SHTI220603","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,25]],"date-time":"2022-05-25T12:17:50Z","timestamp":1653481070000},"score":1,"resource":{"primary":{"URL":"https:\/\/ebooks.iospress.nl\/doi\/10.3233\/SHTI220603"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,25]]},"references-count":0,"URL":"https:\/\/doi.org\/10.3233\/shti220603","relation":{},"ISSN":["0926-9630","1879-8365"],"issn-type":[{"value":"0926-9630","type":"print"},{"value":"1879-8365","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,25]]}}}