Fig. 2: Pathogenic prediction workflow for whole genome single-nucleotide variant (SNV) interrogation for 50 African (orange) and 50 European (blue) clinically matched advanced prostate cancer cases. | Communications Medicine

Fig. 2: Pathogenic prediction workflow for whole genome single-nucleotide variant (SNV) interrogation for 50 African (orange) and 50 European (blue) clinically matched advanced prostate cancer cases.

From: Evaluating variant pathogenicity prediction tools to establish African inclusive guidelines for germline genetic testing

Fig. 2

Rare SNVs were further defined as pathogenic variants (PVs) or benign variants (BVs) to establish the positive and negative benchmark variant datasets, respectively. Variants of unknown significance (VUS) were further interrogated for classification of potentially deleterious variants (PDVs) using ancestral-specific 10-VPPT criteria, with ancestral-unique VPPTs in bold, with further cancer-specific classification as potentially oncogenic variants (POVs), based on further interrogation for potential Loss of Function (pLoF) and Cancer Genome Interpreter (CGI) oncogenic status.

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