Analysis of population-specific pharmacogenomic variants using next-generation sequencing data.

ABSTRACT: Functional rare variants in drug-related genes are believed to be highly differentiated between ethnic- or racial populations. However, knowledge of population differentiation (PD) of rare single-nucleotide variants (SNVs), remains widely lacking, with the highest fixation indices, (F_st values), from both rare and common variants annotated to specific genes, having only been marginally used to understand PD at the gene level. In this study, we suggest a new, gene-based PD method, PD of Rare and Common variants (PDRC), for analyzing rare variants, as inspired by Generalized Cochran-Mantel-Haenszel (GCMH) statistics, to identify highly population-differentiated drug response-related genes ("pharmacogenes"). Through simulation studies, we reveal that PDRC adequately summarizes rare

SUBMITTER: Ahn E 

PROVIDER: S-EPMC5583360 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature