Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes.
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ABSTRACT:
SUBMITTER: Hart SN
PROVIDER: S-EPMC4945829 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
Publications
Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes.
Hart Steven N SN Maxwell Kara N KN Thomas Tinu T Ravichandran Vignesh V Wubberhorst Bradley B Klein Robert J RJ Schrader Kasmintan K Szabo Csilla C Weitzel Jeffrey N JN Neuhausen Susan L SL Nathanson Katherine K Offit Kenneth K Couch Fergus J FJ Vijai Joseph J
Briefings in bioinformatics 20150910 4
The purpose of this article is to inform readers about technical challenges that we encountered when assembling exome sequencing data from the 'Simplifying Complex Exomes' (SIMPLEXO) consortium-whose mandate is the discovery of novel genes predisposing to breast and ovarian cancers. Our motivation is to share these obstacles-and our solutions to them-as a means of communicating important technical details that should be discussed early in projects involving massively parallel sequencing. ...[more]
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