Fig. 5

PWAS enriches GWAS discoveries across phenotypes. a We analyzed 23 binary phenotypes, 25 continuous phenotypes, and 1 categorical phenotype (male-balding patterns) derived from ~ 330K UK Biobank samples. Within binary phenotypes, the number of cases spans orders of magnitude (from only 127 in systemic sclerosis to 62K in hypertension). b, c Partition of the significant protein-coding genes, across the different phenotypes, that were detected by GWAS, PWAS, or both. The total number of significant genes is shown in brackets. In b, a gene was considered significant by GWAS if a non-synonymous variant within the coding region of the gene passed the exome-wide significance threshold (p < 5E−07). In c, a relaxed criterion was taken, considering all variants within 500,000 bp to each side of the coding region of the gene (here showing only the PWAS significant genes). d The number of significant genes per phenotype found by PWAS alone, according to the relaxed criterion of GWAS, as defined in c (i.e., without any significant variant within 500,000 bp)