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.
other · Level V
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- Record sourced from PubMed, PMID 26358132.
- Also identified by DOI 10.1093/bib/bbv075 and PMC identifier 4945829.
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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.
Medical subject headings
- Exome
- High-Throughput Nucleotide Sequencing