COPDGene (NCT00608764) is a large, multicenter study designed to investigate the genetic and epidemiologic characteristics of COPD and other smoking-related lung diseases21. COPDGene subjects were of self-described non-Hispanic white or African-American ancestry, and genotyped using the HumanOmniExpress (Illumina, San Diego, CA). Genotype imputation on the COPDGene cohorts was performed using MaCH and minimac31,32 using 1000 Genomes33 Phase I v3 European (EUR) and cosmopolitan reference panels for the non-Hispanic whites and African-Americans, respectively. Detailed descriptions of the ECLIPSE, NETT/NAS, and Norway (GenKOLS) cohorts, including genotyping quality control and imputation, have been previously published7,9,12,21,34–36.
