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Chunk #51 — Methods — Collapsing analyses

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Rare variant contribution to human disease in 281,104 UK Biobank exomes.
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For the pan-ancestry analysis, a Cochran–Mantel–Haenszel test was performed to generate a combined 2 × 2 × N stratified P value, with N representing up to all four genetic ancestry groups. This was performed for 4,836 binary phenotypes where one of the three non-European ancestries had five or more cases and for all quantitative traits. For the quantitative traits, we used a linear regression model that included the following covariates: categorical ancestry (European, African, East Asian or South Asian), the top five ancestry principal components, age and sex.