Extended Data Fig. 1: Phenotypic and demographic diversity of the sequenced UK Biobank cohort.
From: Rare variant contribution to human disease in 281,104 UK Biobank exomes
a, The percentage of binary union traits assessed in the cohort per disease chapter. b, The percentage of quantitative traits assessed in the cohort per chapter. c, The median number of cases of European ancestry per binary union phenotype stratified by chapter with interquartile range depicted. The median number of European cases per binary union phenotype was 191 (interquartile range: 72-773). d, The median number of participants of European ancestry tested for quantitative traits stratified by chapter with interquartile ranges depicted. The median number of individuals tested for quantitative traits was 13,782 (interquartile range: 13,780-17,795). e, Histogram depicting the number of binary union phenotypes per patient. The x-axis was capped at 200 for visual clarity. The median number of binary union traits per European participant was 25 (interquartile range: 12-45) of a possible 4,911. f, The distribution of represented genetic ancestries in the sequenced cohort. EUR = European, SAS = South Asian, AFR = African, EAS = East Asian, AMR = American. g, The distribution of the number of rare (MAF <0.005%) qualifying variants (QVs) in OMIM-derived Mendelian disease genes per ancestral group. Error bars in (c, d) represent the interquartile range.
