{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T04:56:24Z","timestamp":1777438584455,"version":"3.51.4"},"reference-count":11,"publisher":"Oxford University Press (OUP)","issue":"19","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Motivation: The search for causative genetic variants in rare diseases of presumed monogenic inheritance has been boosted by the implementation of whole exome (WES) and whole genome (WGS) sequencing. In many cases, WGS seems to be superior to WES, but the analysis and visualization of the vast amounts of data is demanding.<\/jats:p>\n               <jats:p>Results: To aid this challenge, we have developed a new tool\u2014RareVariantVis\u2014for analysis of genome sequence data (including non-coding regions) for both germ line and somatic variants. It visualizes variants along their respective chromosomes, providing information about exact chromosomal position, zygosity and frequency, with point-and-click information regarding dbSNP IDs, gene association and variant inheritance. Rare variants as well as de novo variants can be flagged in different colors. We show the performance of the RareVariantVis tool in the Genome in a Bottle WGS data set.<\/jats:p>\n               <jats:p>Availability and implementation: \u00a0https:\/\/www.bioconductor.org\/packages\/3.3\/bioc\/html\/RareVariantVis.html<\/jats:p>\n               <jats:p>Contact: \u00a0tomasz.stokowy@k2.uib.no<\/jats:p>\n               <jats:p>Supplementary information: \u00a0Supplementary data are available at Bioinformatics online.<\/jats:p>","DOI":"10.1093\/bioinformatics\/btw359","type":"journal-article","created":{"date-parts":[[2016,6,11]],"date-time":"2016-06-11T03:54:37Z","timestamp":1465617277000},"page":"3018-3020","source":"Crossref","is-referenced-by-count":7,"title":["RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data"],"prefix":"10.1093","volume":"32","author":[{"given":"Tomasz","family":"Stokowy","sequence":"first","affiliation":[{"name":"1 Department of Clinical Science, University of Bergen, Bergen 5020, Norway"},{"name":"2 Department of Informatics, Computational Biology Unit, University of Bergen, Bergen 5020, Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mateusz","family":"Garbulowski","sequence":"additional","affiliation":[{"name":"3 Department of Informatics, Silesian University of Technology, Gliwice 44-100, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Torunn","family":"Fiskerstrand","sequence":"additional","affiliation":[{"name":"1 Department of Clinical Science, University of Bergen, Bergen 5020, Norway"},{"name":"4 Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen 5021, Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Holdhus","sequence":"additional","affiliation":[{"name":"1 Department of Clinical Science, University of Bergen, Bergen 5020, 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University Medical Center, Nijmegen 6525, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gunnar","family":"Houge","sequence":"additional","affiliation":[{"name":"4 Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen 5021, Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kjell","family":"Petersen","sequence":"additional","affiliation":[{"name":"2 Department of Informatics, Computational Biology Unit, University of Bergen, Bergen 5020, Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inge","family":"Jonassen","sequence":"additional","affiliation":[{"name":"2 Department of Informatics, Computational Biology Unit, University of Bergen, Bergen 5020, Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vidar M.","family":"Steen","sequence":"additional","affiliation":[{"name":"1 Department of Clinical Science, University of Bergen, Bergen 5020, 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