Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network.

ABSTRACT:

Background

In an effort to return actionable results from variant data to electronic health records (EHRs), participants in the Electronic Medical Records and Genomics (eMERGE) Network are being sequenced with the targeted Pharmacogenomics Research Network sequence platform (PGRNseq). This cost-effective, highly-scalable, and highly-accurate platform was created to explore rare variation in 84 key pharmacogenetic genes with strong drug phenotype associations.

Methods

To return Clinical Laboratory Improvement Amendments (CLIA) results to our participants at the Group Health Cooperative, we sequenced the DNA of 900 participants (61 % female) with non-CLIA biobanked samples. We then selected 450 of those to be re-consented, to redraw blood, and ultimately to validate CLIA varia

SUBMITTER: Crosslin DR 

PROVIDER: S-EPMC4517371 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature