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. Author manuscript; available in PMC: 2022 Jan 2.
Published in final edited form as: Genet Med. 2021 Feb 2;23(5):918–926. doi: 10.1038/s41436-020-01074-w

Figure 1: Overview of the study design.

Figure 1:

A head-to-head comparison was conducted to evaluate the molecular diagnostic yield of the Genome Analysis Toolkit Joint Genotyping (GATK-JG) based germline variant detection in two independent cohorts of 239 cancer patients in the presence and absence of an additional germline sample set of 100 germline exomes. (BAM: Binary Alignment Map, VQSR: Variant Quality Score Recalibration, ACMG: American College of Medical Genetics and Genomics, OMIM: Online Mendelian Inheritance in Men, pLOF: putative loss-of-function)