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Chunk #32 — Methods — Phenotypes

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Rare variant contribution to human disease in 281,104 UK Biobank exomes.
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In total, 44 UKB paths were represented for the binary traits and 49 for the quantitative traits. For UKB tree fields, such as the ICD-10 hospital admissions (field 41202), we studied each leaf individually and studied each subsequent higher-level groupings up to the ICD-10 root chapter as separate phenotypic entities. Furthermore, for the tree-related fields (fields: 20001, 20002, 40001, 40002, 40006 and 41202), we restricted controls to participants who did not have a positive diagnosis for any phenotype contained within the corresponding chapter to reduce potential contamination due to genetically related diagnoses. A minimum of 30 cases were required for a binary trait to be studied.