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. Author manuscript; available in PMC: 2021 Nov 1.
Published in final edited form as: Nat Genet. 2020 Oct 12;52(11):1145–1150. doi: 10.1038/s41588-020-0707-1

Extended Data Fig. 2 |. Distribution of burden-contributing variation across case and control cohorts in each of four discrete MAF bins.

Extended Data Fig. 2 |

a, The Discovery case cohort shows a 2.5-fold enrichment for ultra-rare (0.001% > MAF > 0%) alleles compared to controls. b, The Replication cohort shows a 2-fold enrichment of such alleles compared to the exome control cohort. c, The BBS case meta-analysis shows a 2.2-fold enrichment compared to the combined control cohorts. d, Collapsed cohorts. a–d show plots across four MAF bins (1% > MAF > 0.5%, 0.5% > MAF > 0.1%, 0.1% > MAF > 0.001%, and 0.001% > MAF > 0%).