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

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

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


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.

Original languageEnglish
Pages (from-to)672-677
Number of pages6
JournalBriefings in Bioinformatics
Issue number4
StatePublished - 1 Jul 2016
Externally publishedYes


  • Exome
  • Genomics

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