Variation in Actionable Pharmacogenetic Markers in Natives and Mestizos From Mexico.

ABSTRACT: The identification and characterization of pharmacogenetic variants in Latin American populations is still an ongoing endeavor. Here, we investigated SNVs on genes listed by the Pharmacogenomics Knowledge Base in 1284 Mestizos and 94 Natives from Mexico. Five institutional cohorts with NGS data were retrieved from different research projects at INMEGEN, sequencing files were filtered for 55 pharmacogenes present in all cohorts to identify novel and known variation. Bioinformatic tools VEP, PROVEAN, and FATHMM were used to assess, in silico, the functional impact of this variation. Next, we focused on 17 genes with actionable variants that have been clinically implemented. Allele frequencies were compared with major continental groups and differences discussed in the scope of a pharm

SUBMITTER: Gonzalez-Covarrubias V 

PROVIDER: S-EPMC6796793 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature