Measuring coverage and accuracy of whole-exome sequencing in clinical context.

ABSTRACT:

Purpose

To evaluate the coverage and accuracy of whole-exome sequencing (WES) across vendors.

Methods

Blood samples from three trios underwent WES at three vendors. Relative performance of the three WES services was measured for breadth and depth of coverage. The false-negative rates (FNRs) were estimated using the segregation pattern within each trio.

Results

Mean depth of coverage for all genes was 189.0, 124.9, and 38.3 for the three vendor services. Fifty-five of the American College of Medical Genetics and Genomics 56 genes, but only 56 of 63 pharmacogenes, were 100% covered at 10 × in at least one of the nine individuals for all vendors; however, there was substantial interindividual variability. For the two vendors with mean depth of coverage >120 ×, analytic p

SUBMITTER: Kong SW 

PROVIDER: S-EPMC6185824 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature