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Chunk #5 — Cohort characteristics

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Rare variant contribution to human disease in 281,104 UK Biobank exomes.
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Approximately 95% of the sequenced UKB participants are of European ancestry (Extended Data Fig. 1f). This affects health-care equity, as the resolution to evaluate variants across the allele frequency spectrum is proportional to the number of sequenced individuals in a population. For example, individuals from non-European ancestries showed a substantially higher number of rare (minor allele frequency (MAF) < 0.005%), non-synonymous variants in Online Mendelian Inheritance in Man (OMIM) disease-associated genes (Extended Data Fig. 1g). This demonstrates a reduced resolution to accurately estimate lower variant frequencies in non-European populations, as previously observed25.