Fig. 1: Overview of the study design. | Genetics in Medicine

Fig. 1: Overview of the study design.

From: Evaluating the molecular diagnostic yield of joint genotyping–based approach for detecting rare germline pathogenic and putative loss-of-function variants

Fig. 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.

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