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[Preprint]. 2023 Sep 17:2023.02.03.527061. Originally published 2023 Feb 4. [Version 3] doi: 10.1101/2023.02.03.527061

PMC9915721.1; 2023 Feb 4
PMC9915721.2; 2023 Feb 15
PMC9915721.3; 2023 Sep 17

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Figure 2. — Human-specific fixed variants are significantly enriched compared to variants that are not fixed in circadian regulatory elements (Fisher’s exact: OR=1.25, P=8.39e-4) and gene regions (Fisher’s exact: OR=1.84, P=7.06e-12). Promoters show a similar enrichment, but the higher p-value is the result of the small number of variants (Fisher’s exact test: OR=1.21, P=0.65). Likewise, archaic-specific variants are enriched in circadian regulatory regions (Fisher’s exact: OR=1.16, P=6.15e-5) and gene regions (Fisher’s exact: OR=1.13, P=0.023), with the promoters showing a similar trend (Fisher’s exact test: OR=1.09, P=0.63). The numbers in parentheses give the counts of fixed variants observed in each type of element. Regulatory elements were defined based on the ENCODE candidate cis-regulatory elements.