Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.

摘要: As massively parallel sequencing is increasingly being used for clinical decision making, it has become critical to understand parameters that affect quality and establish methods measuring reporting standards. In this report, we propose a definition reduced coverage regions describe set of standards variant calling in applications. To enable centers assess the poor their own data, optimized tool (ExCID) identify loci within genes or particular interest. We framework examine data from 500 patients generated 10 projects at National Human Genome Research Institute/National Cancer Institute Clinical Sequencing Exploratory Consortium. This approach identified clinically relevant genes, including known were uniquely missed individual centers, multiple all centers. report provides process road map looking perform similar analyses on data.