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Chunk #35 — Methods — Phenotypes

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Rare variant contribution to human disease in 281,104 UK Biobank exomes.
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We subsequently re-analysed the 300Kv1 cohort using the updated Hospital Episode Statistic (HES) and death registry data as released ad hoc by the UKB on July 2020. Among Data-Field 41270 of primary and secondary inpatient diagnoses that contribute to the Union phenotypes, we found on average a 38.1% increase in the number of cases when comparing the April 2017 refresh to the July 2020 refresh. Throughout this article, we adopt the July 2020 refresh data as the default analysis dataset and refer to this update as the ‘300Kv2’ dataset. The effect on case numbers before and after updating to this release are documented in Supplementary Table 1.