ArticleeLife2020
Demographic history mediates the effect of stratification on polygenic scores.
Article in eLife, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
94 citing papers in PubMed, 134 citations in OpenAlex.
- Genomic insights into natural selection in recent human history.Nature reviews. Genetics · 2026Review
- Post-genome-wide association study variant-to-function challenges in asthma research.The Journal of allergy and clinical immunology · 2026Review
- Genetic and health determinants of cancer risk in Bangladeshi and Pakistani individuals in the UK.Nature communications · 2026Article
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- Evaluating confounding in rare variant genome wide association studies.Nature communications · 2026Article
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- lcUMAPtSNE: use of non-linear dimensionality reduction techniques with genotype likelihoods.BMC genomics · 2026Article
- Quantifying direct genetic signal captured by principal component adjustment.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Pitfalls in estimating and interpreting the contribution of ultra-rare genetic variants to the heritability of complex traits.medRxiv : the preprint server for health sciences · 2026Article
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- Fine-scale structure of a whole regional population through genetics and genealogies.Nature communications · 2026Article
- A spectral component approach leveraging identity-by-descent graphs to address recent population structure in genomic analysis.Genome research · 2026Article
- Topological stratification of continuous genetic variation in large biobanks.PLoS genetics · 2026Article
- KANN: estimation of genetic ancestry profiles by nearest neighbor regression.Nucleic acids research · 2026Article
- Rare variant analyses provide insights into the genetic architecture of endometriosis.Human genomics · 2026Article
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- Genetic effects on migration behavior contribute to increasing spatial differentiation at trait-associated loci in Estonia.iScience · 2025Article
- Recommendations for responsible use of population descriptors in polygenic risk score development.Nature genetics · 2025Review
- Polygenic prediction of human complex traits using ancient DNA.Current opinion in genetics & development · 2025Review
- Genome-wide association study for agronomic and yield-related traits in spring wheat (Triticum aestivum L.) germplasm.BMC plant biology · 2025Article
34 more citing papers are in PubMed but not listed here.
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Population stratification continues to bias the results of genome-wide association studies (GWAS). When these results are used to construct polygenic scores, even subtle biases can cumulatively lead to large errors. To study the effect of residual stratification, we simulated GWAS under realistic models of demographic history. We show that when population structure is recent, it cannot be corrected using principal components of common variants because they are uninformative about recent history. Consequently, polygenic scores are biased in that they recapitulate environmental structure. Principal components calculated from rare variants or identity-by-descent segments can correct this stratification for some types of environmental effects. While family-based studies are immune to stratification, the hybrid approach of ascertaining variants in GWAS but reestimating effect sizes in siblings reduces but does not eliminate stratification. We show that the effect of population stratification depends not only on allele frequencies and environmental structure but also on demographic history.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.