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Chunk #30 — Methods — Phenotypes

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Rare variant contribution to human disease in 281,104 UK Biobank exomes.
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We studied two main phenotypic categories: binary and quantitative traits taken from the February 2020 data release that was accessed on 27 March 2020 as part of UKB application 26041. To parse the UKB phenotypic data, we developed a modified version of the PHESANT package, which can be located at https://github.com/astrazeneca-cgr-publications/PEACOK. The adopted parameters are available in Supplementary Methods and have been previously introduced in PHESANT (https://github.com/MRCIEU/PHESANT)24.