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. Author manuscript; available in PMC: 2025 Aug 25.
Published in final edited form as: Cell. 2025 Jun 26;188(13):3389–3404.e6. doi: 10.1016/j.cell.2025.04.027

Figure 4. Impact of demographic history on disease risk.

Figure 4

(A) Relationship between the number of homozygous derived missense/pLoFs and the ancestry coefficient for individuals on the Indian cline. The y-axis is truncated to better illustrate the trends. (B) Relationship between the number of homozygous derived missense/pLoFs and the total sum of HBD segments per individual. Individuals are colored in function of their AHG-related ancestry coefficient, individuals not on the cline are in grey. We fit a regression using generalized linear model (glm) and obtain the following fit: y = 2576 + 0.916*x. (C) Distribution of archaic ancestry regions across the genome. We computed the mean archaic frequency along the genome of LASI-DAD individuals and considered segments with an archaic frequency higher than the mean (μ) + two standard deviations (σ) as enriched (blue for Neanderthal, green for Denisovan). Archaic ancestry deserts (<0.1% archaic ancestry over 10 Mb) are shown as striped rectangles in the same colors.