{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T01:58:17Z","timestamp":1779242297135,"version":"3.51.4"},"reference-count":4,"publisher":"Oxford University Press (OUP)","issue":"22","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Summary: When performing DNA sequencing to diagnose affected individuals with monogenic forms of rare diseases, accurate attribution of causality to detected variants is imperative but imperfect. Even if a gene has variants already known to cause a disease, rare disruptive variants predicted to be causal are not always so, mainly due to imperfect ability to predict the pathogenicity of variants. Existing population-scale sequence resources such as 1000 Genomes are useful to quantify the \u2018background prevalence\u2019 of an unaffected individual being falsely predicted to carry causal variants. We developed GeneVetter to allow users to quantify the \u2018background prevalence\u2019 of subjects with predicted causal variants within specific genes under user-specified filtering parameters. GeneVetter helps quantify uncertainty in monogenic diagnosis and design genetic studies with support for power and sample size calculations for specific genes with specific filtering criteria. GeneVetter also allows users to analyze their own sequence data without sending genotype information over the Internet. Overall, GeneVetter is an interactive web tool that facilitates quantifying and accounting for the background prevalence of predicted pathogenic variants in a population.<\/jats:p>\n               <jats:p>Availability and Implementation: \u00a0GeneVetter is available at http:\/\/genevetter.org\/<\/jats:p>\n               <jats:p>Contact: \u00a0mgsamps@med.umich.edu or hmkang@umich.edu<\/jats:p>\n               <jats:p>Supplementary information: \u00a0Supplementary data are available at Bioinformatics online.<\/jats:p>","DOI":"10.1093\/bioinformatics\/btv432","type":"journal-article","created":{"date-parts":[[2015,7,25]],"date-time":"2015-07-25T01:37:36Z","timestamp":1437788256000},"page":"3682-3684","source":"Crossref","is-referenced-by-count":6,"title":["GeneVetter: a web tool for quantitative monogenic assessment of rare diseases"],"prefix":"10.1093","volume":"31","author":[{"given":"Christopher E.","family":"Gillies","sequence":"first","affiliation":[{"name":"1 Division of Nephrology, Department of Pediatrics and Communicable Diseases, University of Michigan School of Medicine, Ann Arbor, MI, USA and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine C.","family":"Robertson","sequence":"additional","affiliation":[{"name":"1 Division of Nephrology, Department of Pediatrics and Communicable Diseases, University of Michigan School of Medicine, Ann Arbor, MI, USA and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew G.","family":"Sampson","sequence":"additional","affiliation":[{"name":"1 Division of Nephrology, Department of Pediatrics and Communicable Diseases, University of Michigan School of Medicine, Ann Arbor, MI, USA and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyun Min","family":"Kang","sequence":"additional","affiliation":[{"name":"2 Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2015,7,23]]},"reference":[{"key":"2023020202403857200_btv432-B1","doi-asserted-by":"crossref","first-page":"1380","DOI":"10.1038\/ng.2794","article-title":"Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes","volume":"45","author":"Flannick","year":"2013","journal-title":"Nat. Genet."},{"key":"2023020202403857200_btv432-B2","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1038\/nature13127","article-title":"Guidelines for investigating causality of sequence variants in human disease","volume":"508","author":"MacArthur","year":"2014","journal-title":"Nature"},{"key":"2023020202403857200_btv432-B3","doi-asserted-by":"crossref","first-page":"637","DOI":"10.2215\/CJN.07200712","article-title":"Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome","volume":"8","author":"McCarthy","year":"2013","journal-title":"Clin. J. Am. Soc. Nephrol. CJASN"},{"key":"2023020202403857200_btv432-B4","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1681\/ASN.2014050489","article-title":"A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome","volume":"26","author":"Sadowski","year":"2014","journal-title":"J. Am. Soc. Nephrol"}],"container-title":["Bioinformatics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article-pdf\/31\/22\/3682\/49035907\/bioinformatics_31_22_3682.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article-pdf\/31\/22\/3682\/49035907\/bioinformatics_31_22_3682.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,2]],"date-time":"2023-02-02T03:50:58Z","timestamp":1675309858000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article\/31\/22\/3682\/241256"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,7,23]]},"references-count":4,"journal-issue":{"issue":"22","published-print":{"date-parts":[[2015,11,15]]}},"URL":"https:\/\/doi.org\/10.1093\/bioinformatics\/btv432","relation":{},"ISSN":["1367-4811","1367-4803"],"issn-type":[{"value":"1367-4811","type":"electronic"},{"value":"1367-4803","type":"print"}],"subject":[],"published-other":{"date-parts":[[2015,11,15]]},"published":{"date-parts":[[2015,7,23]]}}}