COPDGene (ClinicalTrials.gov: NCT00608764) is an ongoing study of over 10,000 non-Hispanic White and African American cigarette smokers. It was designed to investigate COPD and other smoking-related lung diseases22. COPDGene subjects were initially genotyped for ~1 million single nucleotide polymorphisms (SNPs) using the HumanOmniExpress array (Illumina, San Diego, CA). As part of TOPMed freeze 6a, WGS was conducted on 10,372 subjects. Among them, 9,732 subjects overlapped with the subjects in the parent study having array genotyped data, and thus were used in our analyses.
