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. 2022 Jul 20;607(7920):732–740. doi: 10.1038/s41586-022-04965-x

Fig. 2. Functionally important regions.

Fig. 2

a, Fraction of regions falling into functional annotation classes, as defined by Ensembl gene map, as a function of DR. b, DR score as a function of distance from exon and LOEUF decile. Error bars represent 95% CI, computed using a normal approximation, treating each gene (n ranges between 1,206 and 1,848) as an independent observation. c, Fraction of rare (with four or fewer carriers) variants as a function of DR. d, Average GERP score in 500-bp windows as a function of DR. RS, rejected substitution. e,f, LOUEF (e) and LOEUF|GERP (f) as a function of DR. In e and f, middle bar indicates the average, hinges are the 25th and the 75th quantiles, black dots indicate outliers, and the whiskers extend to 1.5 interquartile range from the hinges to the largest or smallest value. The number of genes or observations in the DR ranges are the following: n(0–1) = 1,234, n(0.1–0.2) = 3,202, n(0.2–0.3) = 4,474, n(0.3–0.4) = 3,888, n(0.4–0.5) = 2,476, n(0.5–0.6) = 1,384, n(0.6–0.7) = 863, n(0.7–0.8) = 522, n(0.8–0.9) = 374 and n(0.9–1) = 427.