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Chunk #10 — Results — Protocol evaluation design

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GAWMerge expands GWAS sample size and diversity by combining array-based genotyping and whole-genome sequencing.
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HumanOmni1-Quad_v1-0_BIllumina HumanHap550v3.0Array-genotyped dataN, SNPs2,443,1791,051,295561,466Participants, total N2,6739,9622,159Ancestry group, N (%)European1,961 (73%)6,664 (67%)2,159 (100%)African American712 (27%)3,298 (33%)NASex, N (%)Males1,019 (38%)5,333 (54%)1,367 (63%)Females1,654 (62%)4,629 (46%)792 (37%)COPD diagnosis, N (%)YesNA4,280 (43%)1,764 (82%)No3,632 (36%)395 (14%)Age (mean ± SD)36.6 ± 5.659.6 ± 9.062.2 ± 8.2WGS-genotyped dataaParticipants, total NNA9,7371,484Ancestry group, N (%)EuropeanNA6,502 (67%)1,461 (98%)African American3,235 (33%)23b(2%)Sex, N (%)Males5,213 (54%)933 (64%)Females4,524 (46%)528 (36%)COPD diagnosis, N (%)Yes4,186 (43%)1,271 (87%)No3,549 (36%)190 (13%)Age (mean ± SD)59.6 ± 9.062.7 ± 7.7aAll WGS-genotyped data are from TOPMed freeze 6a.bThe number of African American in ECLIPSE is too small and excluded from following analysis.