Analytic Validation of Whole Exome Sequencing for Clinical Diagnostics of Inherited Disorders
May 30, 2017
Analytic validation of SNV and indel detection in Whole Exome Sequencing assay shows high sensitivity and
specificity. In the analytic validation, the WES assay achieved 99.5% sensitivity, 99.9% specificity and 99.4% positive predictive value for detecting SNVs and 97.2%, 95.7% and 97.0% sensitivity for detecting INDELs of 1-10, 11-20, and 21-30 bases, respectively.