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By simplifying visualization and analyses of exome-scale sequence variation data, this program will help bring the power and promise of massively-parallel DNA sequencing to a broader group of researchers.<\/jats:p>\n               <jats:p>Availability and Implementation: VarSifter is written in Java, and is freely available in source and binary versions, along with a User Guide, at http:\/\/research.nhgri.nih.gov\/software\/VarSifter\/.<\/jats:p>\n               <jats:p>Contact: \u00a0mullikin@mail.nih.gov<\/jats:p>\n               <jats:p>Supplementary Information: Additional figures and methods available online at the journal's website.<\/jats:p>","DOI":"10.1093\/bioinformatics\/btr711","type":"journal-article","created":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T01:24:24Z","timestamp":1325381064000},"page":"599-600","source":"Crossref","is-referenced-by-count":125,"title":["VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer"],"prefix":"10.1093","volume":"28","author":[{"given":"Jamie K.","family":"Teer","sequence":"first","affiliation":[{"name":"1 National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA"}]},{"given":"Eric D.","family":"Green","sequence":"additional","affiliation":[{"name":"1 National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA"}]},{"given":"James C.","family":"Mullikin","sequence":"additional","affiliation":[{"name":"1 National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA"}]},{"given":"Leslie G.","family":"Biesecker","sequence":"additional","affiliation":[{"name":"1 National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA"}]}],"member":"286","published-online":{"date-parts":[[2011,12,30]]},"reference":[{"key":"2023012512193527100_B1","doi-asserted-by":"crossref","first-page":"1998","DOI":"10.1093\/bioinformatics\/btr317","article-title":"SVA: software for annotating and visualizing sequenced human genomes","volume":"27","author":"Ge","year":"2011","journal-title":"Bioinformatics"},{"key":"2023012512193527100_B2","doi-asserted-by":"crossref","first-page":"R86","DOI":"10.1186\/gb-2010-11-8-r86","article-title":"Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences","volume":"11","author":"Goecks","year":"2010","journal-title":"Genome Biol."},{"key":"2023012512193527100_B3","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1056\/NEJMoa1104017","article-title":"A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome","volume":"365","author":"Lindhurst","year":"2011","journal-title":"N. 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