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Publication Detail

Title: 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.

Authors: 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

Published In Brief Bioinform, (2016 07)

Abstract: 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.

PubMed ID: 26358132 Exiting the NIEHS site

MeSH Terms: Exome*; Genetic Predisposition to Disease; High-Throughput Nucleotide Sequencing*; Humans

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