Gene-Wise Burden of Coding Variants Correlates to Noncoding Pharmacogenetic Risk Variants.

ABSTRACT: Genetic variability can modulate individual drug responses. A significant portion of pharmacogenetic variants reside in the noncoding genome yet it is unclear if the noncoding variants directly influence protein function and expression or are present on a haplotype including a functionally relevant genetic variation (synthetic association). Gene-wise variant burden (GVB) is a gene-level measure of deleteriousness, reflecting the cumulative effects of deleterious coding variants, predicted in silico. To test potential associations between noncoding and coding pharmacogenetic variants, we computed a drug-level GVB for 5099 drugs from DrugBank for 2504 genomes of the 1000 Genomes Project and evaluated the correlation between the long-known noncoding variant-drug associations in PharmGKB, with

SUBMITTER: Park J 

PROVIDER: S-EPMC7247590 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature