Integrating rare genetic variants into pharmacogenetic drug response predictions.

ABSTRACT:

Background

Variability in genes implicated in drug pharmacokinetics or drug response can modulate treatment efficacy or predispose to adverse drug reactions. Besides common genetic polymorphisms, recent sequencing projects revealed a plethora of rare genetic variants in genes encoding proteins involved in drug metabolism, transport, and response.

Results

To understand the global importance of rare pharmacogenetic gene variants, we mapped the variability in 208 pharmacogenes by analyzing exome sequencing data from 60,706 unrelated individuals and estimated the importance of rare and common genetic variants using a computational prediction framework optimized for pharmacogenetic assessments. Our analyses reveal that rare pharmacogenetic variants were strongly enriched in mutat

SUBMITTER: Ingelman-Sundberg M 

PROVIDER: S-EPMC5968569 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature