Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.

ABSTRACT:

Importance

Large-scale DNA sequencing identifies incidental rare variants in established Mendelian disease genes, but the frequency of related clinical phenotypes in unselected patient populations is not well established. Phenotype data from electronic medical records (EMRs) may provide a resource to assess the clinical relevance of rare variants.

Objective

To determine the clinical phenotypes from EMRs for individuals with variants designated as pathogenic by expert review in arrhythmia susceptibility genes.

Design, setting, and participants

This prospective cohort study included 2022 individuals recruited for nonantiarrhythmic drug exposure phenotypes from October 5, 2012, to September 30, 2013, for the Electronic Medical Records and Genomics Network Pharmacogenomic

SUBMITTER: Van Driest SL 

PROVIDER: S-EPMC4758131 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature