{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T06:53:31Z","timestamp":1759042411880,"version":"3.37.3"},"reference-count":4,"publisher":"Oxford University Press (OUP)","issue":"14","license":[{"start":{"date-parts":[[2018,11,30]],"date-time":"2018-11-30T00:00:00Z","timestamp":1543536000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000072","name":"NIDCR","doi-asserted-by":"publisher","award":["R03-DE-02579"],"award-info":[{"award-number":["R03-DE-02579"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Summary<\/jats:title>\n                  <jats:p>Family-based sequencing studies enable researchers to identify highly penetrant genetic variants too rare to be tested in conventional case-control studies, by studying co-segregation of variant and disease phenotypes. When multiple affected subjects in a family are sequenced, the probability that a variant or a set of variants is shared identical-by-descent by some or all affected relatives provides evidence against the null hypothesis of complete absence of linkage and association. The Rare Variant Sharing software package RVS implements a suite of tools to assess association and linkage between rare genetic variants and a dichotomous disease indicator in family pedigrees.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Availability and Implementation<\/jats:title>\n                  <jats:p>RVS is available as open source software from the Bioconductor webpage at https:\/\/bioconductor.org\/packages\/release\/bioc\/html\/RVS.html.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Supplementary information<\/jats:title>\n                  <jats:p>Supplementary data are available at Bioinformatics online.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/bioinformatics\/bty976","type":"journal-article","created":{"date-parts":[[2018,11,28]],"date-time":"2018-11-28T20:13:02Z","timestamp":1543435982000},"page":"2509-2511","source":"Crossref","is-referenced-by-count":7,"title":["Detection of rare disease variants in extended pedigrees using RVS"],"prefix":"10.1093","volume":"35","author":[{"given":"Thomas","family":"Sherman","sequence":"first","affiliation":[{"name":"Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health"}]},{"given":"Jack","family":"Fu","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health"}]},{"given":"Robert B","family":"Scharpf","sequence":"additional","affiliation":[{"name":"Department of Oncology, Johns Hopkins School of Medicine, Baltimore, MD, USA"}]},{"given":"Alexandre","family":"Bureau","sequence":"additional","affiliation":[{"name":"D\u00e9partement de M\u00e9decine Sociale et Pr\u00e9ventive, Universit\u00e9 Laval, Qu\u00e9bec, QC, Canada"},{"name":"Centre de Recherche CERVO, Qu\u00e9bec, QC, Canada"}]},{"given":"Ingo","family":"Ruczinski","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health"}]}],"member":"286","published-online":{"date-parts":[[2018,11,30]]},"reference":[{"key":"2023062712222056800_bty976-B1","doi-asserted-by":"crossref","first-page":"2189","DOI":"10.1093\/bioinformatics\/btu198","article-title":"Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives","volume":"30","author":"Bureau","year":"2014","journal-title":"Bioinformatics"},{"key":"2023062712222056800_bty976-B2","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1534\/genetics.114.165225","article-title":"Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts","volume":"197","author":"Bureau","year":"2014","journal-title":"Genetics"},{"key":"2023062712222056800_bty976-B3","article-title":"Inferring disease risk genes from sequencing data in multiplex pedigrees through sharing of one or multiple rare variants","author":"Bureau","year":"2018","journal-title":"Genet. Epidemiol"},{"key":"2023062712222056800_bty976-B4","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/gepi.22010","article-title":"Whole exome association of rare deletions in multiplex oral cleft families","volume":"41","author":"Fu","year":"2017","journal-title":"Genet. Epidemiol"}],"container-title":["Bioinformatics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article-pdf\/35\/14\/2509\/50720367\/bioinformatics_35_14_2509.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article-pdf\/35\/14\/2509\/50720367\/bioinformatics_35_14_2509.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,6,27]],"date-time":"2023-06-27T12:22:34Z","timestamp":1687868554000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article\/35\/14\/2509\/5221015"}},"subtitle":[],"editor":[{"given":"Alfonso","family":"Valencia","sequence":"additional","affiliation":[]}],"short-title":[],"issued":{"date-parts":[[2018,11,30]]},"references-count":4,"journal-issue":{"issue":"14","published-print":{"date-parts":[[2019,7,15]]}},"URL":"https:\/\/doi.org\/10.1093\/bioinformatics\/bty976","relation":{},"ISSN":["1367-4803","1367-4811"],"issn-type":[{"type":"print","value":"1367-4803"},{"type":"electronic","value":"1367-4811"}],"subject":[],"published-other":{"date-parts":[[2019,7]]},"published":{"date-parts":[[2018,11,30]]}}}