Article
Analytical validation of whole exome and whole genome sequencing for clinical applications.
BMC medical genomics - 23 Apr 2014
Linderman Michael D, Brandt Tracy, Edelmann Lisa, Jabado Omar, Kasai Yumi, Kornreich Ruth, Mahajan Milind, Shah Hardik, Kasarskis Andrew, Schadt Eric E
Abstract excerpt
BACKGROUND: Whole exome and genome sequencing (WES/WGS) is now routinely offered as a clinical test by a growing number of laboratories. As part of the test design process each laboratory must determine the performance characteristics of the platform, test and informatics pipeline. This report documents one such characterization of WES/WGS. METHODS: Whole exome and whole genome sequencing was performed on...
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