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. Author manuscript; available in PMC: 2022 Jan 20.
Published in final edited form as: Nat Med. 2021 Jan 11;27(1):66–72. doi: 10.1038/s41591-020-1133-8

Extended Data Fig. 2. Power analyses for association of gene burdens with at least 25 heterozygous carriers for rare pLOF variants with phenotypes of various case counts.

Extended Data Fig. 2

Power analyses for association of gene burdens collapsing rare pLOF variants with 25 heterozygous carriers (i.e. allele frequency = 25/2N ≈ 0.001, where N = 2172 (AFR) + 8198 (EUR)) with phenotypes having various case counts. Phenotype case counts range from 20 to 6500 to reflect the range of case counts for phecodes in the Penn Medicine Biobank discovery cohort, and the power of the gene burden association with each phenotype as a function of odds ratio (OR=exp(beta)) is plotted on separate lines per the plot legend.