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