Fig. 1

a: The MSK-IMPACT workflow. MSK-IMPACT is performed as a matched tumor/normal test at our institution, allowing for concurrent identification of somatic mutations in the tumor sample and inherited germline variants in the subset of 76 cancer relevant genes. b: The validation approach. DNA samples that were previously tested positive for a pathogenic or likely pathogenic variant were identified and blinded for the validation. The samples were tested through the MSK-IMPACT pipeline. Three different types of variants (SNVs, indels and CNVs) were called using various analysis tools