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Accurate differentiation of closely related sub-populations for ancestry estimation

Develop and validate ancestry estimation methods that accurately distinguish individuals from closely related sub-populations (e.g., within the same continent) using SNP genotype data, to enable population-appropriate interpretation of longevity-associated genetic variants and reduce bias in personal genomics analyses.

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Background

Longevity-associated variants can differ in significance across populations due to genetic background, environment, and lifestyle. Many studies focus on European cohorts, limiting generalizability.

The authors describe the need for ancestry identification tools to tailor analyses, but emphasize that differentiating closely related sub-populations remains difficult. Addressing this challenge is essential for accurate, unbiased application of longevity genetics in diverse populations.

References

Nevertheless, distinguishing between individuals from closely associated sub-populations (e.g., from the same continent) is still a difficult challenge (Toma et al., 2018).

— Just-DNA-Seq, open-source personal genomics platform: longevity science for everyone (2403.19087 - Anton et al., 28 Mar 2024) in Section: Unresolved problems — Population estimation