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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 5: Performance of GATK-JG in detecting pathogenic and pLOF variants in 12 clinically oriented phenotype-specific multi-gene panels.

Figure 5:

In the testicular cancer cohort (n=239), more pLOF variants were considered “high quality” in the presence of additional samples for GATK-JG (A). However, GATK-JG detected more pLOF variants in the analyzed MGPs in the breast cancer cohort (n=239) when the germline exomes of this cohort were analyzed in the absence of any other genomic dataset (B). Overall, these findings demonstrated significant variability of GATK-JG ability to detect pLOF variants in clinically relevant genes.