PGRNseq: a targeted capture sequencing panel for pharmacogenetic research and implementation.

ABSTRACT:

Objectives

Although the costs associated with whole-genome and whole-exome next-generation sequencing continue to decline, they remain prohibitively expensive for large-scale studies of genetic variation. As an alternative, custom-target sequencing has become a common methodology on the basis of its favorable balance between cost, throughput, and deep coverage.

Methods

We have developed PGRNseq, a custom-capture panel of 84 genes with associations to pharmacogenetic phenotypes, as a tool to explore the relationship between drug response and genetic variation, both common and rare. We utilized a set of 32 diverse HapMap trios and two clinical cohorts to assess platform performance, accuracy, and ability to discover novel variation.

Results

We found that PGRNseq generat

SUBMITTER: Gordon AS 

PROVIDER: S-EPMC4935646 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature