PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger

Most phenome-wide association studies (PheWASs) to date have used a small to moderate number of SNPs for association with phenotypic data. We performed a large-scale single-cohort PheWAS, using electronic health record (EHR)-derived case-control status for 541 diagnoses using International Classification of Disease version 9 (ICD-9) codes and 25 median clinical laboratory measures. We  calculated associations between these diagnoses and traits with ∼630,000 common frequency SNPs with minor allele frequency> 0.01 for 38,662 individuals.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research