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. 2022 Jul 25;13:4312. doi: 10.1038/s41467-022-31872-6

Table 2.

Weaker selection across the human genome (based on INSIGHT).

Feature ρ ± (stderr) no. sites (M) prop. sites exp. no. (M)a exp. prop.b fold enrich. exp. del.c
CDS 0.624 0.020 33.8 1.18% 19.7 21.5% 18.2 0.47
5 UTR 0.222 0.035 8.2 0.29% 1.5 1.6% 5.6 0.04
3 UTR 0.237 0.033 36.1 1.26% 7.0 7.7% 6.1 0.17
splice 0.883 0.013 0.8 0.03% 0.7 0.7% 26.3 0.02
nonconserved lncRNAd 0.025 0.020 453.6 15.78% 0.0 0.0% 0.0 0.00
conserved lncRNAe 0.412 0.019 23.3 0.81% 8.6 9.4% 11.6 0.21
nonconserved intrond 0.042 0.022 972.6 33.83% 0.0 0.0% 0.0 0.00
conserved introne 0.426 0.019 44.3 1.54% 17.0 18.5% 12.0 0.41
nonconserved intergenicd 0.059 0.036 1255.5 43.67% 21.7 23.6% 0.5 0.52
conserved intergenice 0.376 0.020 46.9 1.63% 15.7 17.0% 10.4 0.38
Total 2875.1 100.00% 91.9 100.0% 2.21

aExpected number of deleterious sites after adjusting for background. In this case, the estimate for nonconserved introns (0.022) was subtracted from each estimate of ρ.

bExpected proportion of deleterious sites after adjusting for background.

cExpected number of new deleterious mutations per diploid individual, assuming a mutation rate of 1.2 × 10−8 per generation per site.

dSites not classified as conserved by phastCons.

eSites classified as conserved by phastCons.