The negative impact of continued exclusion of racial groups from research on cancer genomics
Abbreviations: indel, insertion and deletion; MAF, minor allele frequency; PCa, prostate cancer; PDSV, predicted deleterious structural variant; PDV, predicted deleterious variant; POSV, potentially oncogenic structural variant; POV, potentially oncogenic variant; SNV, single-nucleotide variant; SV, structural variant.During phases II and III we excluded for variants determined not to be pathogenic.
Considering that a lack of African-relevant data would drive a higher proportion of PDVs of unknown or unconfirmed pathogenicity, we used the power of the Cancer Genome Interpreter to further interrogate the 34 undefined PDVs. We identified 12 predicted oncogenic variants spanning
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