PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations.

ABSTRACT:

Motivation

Emergence of genetic data coupled to longitudinal electronic medical records (EMRs) offers the possibility of phenome-wide association scans (PheWAS) for disease-gene associations. We propose a novel method to scan phenomic data for genetic associations using International Classification of Disease (ICD9) billing codes, which are available in most EMR systems. We have developed a code translation table to automatically define 776 different disease populations and their controls using prevalent ICD9 codes derived from EMR data. As a proof of concept of this algorithm, we genotyped the first 6005 European-Americans accrued into BioVU, Vanderbilt's DNA biobank, at five single nucleotide polymorphisms (SNPs) with previously reported disease associations: atrial fibrillation,

SUBMITTER: Denny JC 

PROVIDER: S-EPMC2859132 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature