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. 2015 Sep 14;526(7571):82–90. doi: 10.1038/nature14962

Extended Data Figure 3. UK10K-cohorts, derived allele frequency spectrum by functional annotation.

Extended Data Figure 3

Derived allele frequency (DAF) spectrum for UK10K-cohorts chromosome 20 variants divided by functional class. a, Proportion of total variants (standardized across DAF bins) as a function of DAF for different genic elements. b, Standardized proportion of all variants by DAF bin, and divided into conserved (GERP > 2) versus neutral (GERP ≤ 2) sites. c, Ratio of conserved versus neutral variants by DAF bin, and classified by chromatin segmentation domains defined by ENCODE as detailed in the methods.