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.

doi:10.1093/bib/bbv075

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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.

Briefings in bioinformatics - 1 Jul 2016

Hart Steven N, Maxwell Kara N, Thomas Tinu, Ravichandran Vignesh, Wubberhorst Bradley, Klein Robert J, Schrader Kasmintan, Szabo Csilla, Weitzel Jeffrey N, Neuhausen Susan L, Nathanson Katherine, Offit Kenneth, Couch Fergus J, Vijai Joseph

Abstract excerpt

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...

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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.

Abstract excerpt

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