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 journalArticle

2 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)672-677
Number of pages6
JournalBriefings in bioinformatics
Volume17
Issue number4
DOIs
StatePublished - Jul 1 2016

Keywords

  • Exome
  • Genomics

ASJC Scopus subject areas

  • Information Systems
  • Molecular Biology

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    Hart, S. N., Maxwell, K. N., Thomas, T., Ravichandran, V., Wubberhorst, B., Klein, R. J., Schrader, K., Szabo, C., Weitzel, J. N., Neuhausen, S. L., Nathanson, K., Offit, K., Couch, F. J., & Vijai, J. (2016). 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, 17(4), 672-677. https://doi.org/10.1093/bib/bbv075