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 Academic Article uri icon

Overview

MeSH Major

  • Colonic Neoplasms
  • DNA Glycosylases
  • Gene Expression Regulation, Neoplastic
  • Genetic Predisposition to Disease
  • Mutation

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.

publication date

  • July 2016

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed Central ID

  • PMC4945829

Digital Object Identifier (DOI)

  • 10.1093/bib/bbv075

PubMed ID

  • 26358132

Additional Document Info

start page

  • 672

end page

  • 7

volume

  • 17

number

  • 4