Supplementary Figure 6: Comparison of CDTS between study populations. | Nature Genetics

Supplementary Figure 6: Comparison of CDTS between study populations.

From: The human noncoding genome defined by genetic diversity

Supplementary Figure 6

a, The heat map compares the CDTS percentiles computed with two different study populations: unrelated EUR (n = 4,436) and unrelated AFR (n = 1,087). The counts are normalized by the size of the respective percentile slices. The intensity of the coloring reflects the number of normalized counts. Overall matched CDTS percentiles are particularly dense at both ends of the spectrum. b, The figure illustrates the R2 obtained through linear regression when comparing the CDTS percentiles of all study populations presented in Supplementary Fig. 5 (all, n = 11,257; unrelated, n = 7,794; unrelated AFR, n = 1,087; unrelated EUR, n = 4,436; unrelated ADMIX, n = 1,763; 1000 Genomes, n = 2,504). The linear regression for each comparison was computed with the percentile-slice-size-normalized counts, as depicted in a. There is strong agreement in genome domains that have high constraint across ancestries. However, we observed occasional differences among ancestry groups that will merit attention to separate technical noise (sequencing, alignment, limited data for some populations) from biologically relevant differences. One possibility is that recent population growth may have resulted in changes in the patterns of deleterious genetic variation and genome structure with consequences for fitness and disease architecture. Unrelated are a subset of All. Unrelated EUR, AFR and ADMIX are a subset of unrelated. EUR, European; AFR, African; ADMIX, admixed population group.

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