ArticleEuropean journal of human genetics : EJHG2021
Genetic drift from the out-of-Africa bottleneck leads to biased estimation of genetic architecture and selection.
Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- NAT2 global landscape: Genetic diversity and acetylation statuses from a systematic review.PloS one · 2023Pooled it
- Methods to detect selection history in a population under ongoing directional selection.Genetics · 2026Article
- Ancestral diversity in complex disease genetics: from discovery to translation.Nature reviews. Genetics · 2026Review
- Per-allele disease and complex trait effect sizes are predominantly African MAF-dependent in European populations.medRxiv : the preprint server for health sciences · 2026Article
- Improved Identification of Large-effect Rare Genetic Variants using Haplotype Aggregated Allele-specific Expression Data.medRxiv : the preprint server for health sciences · 2025Article
- From individuals to ancestries: Towards attributing trait variation to haplotypes.PLoS genetics · 2025Article
- Heritability of complex traits in sub-populations experiencing bottlenecks and growth.Journal of human genetics · 2024Article
- Type 1 diabetes in diverse ancestries and the use of genetic risk scores.The lancet. Diabetes & endocrinology · 2022Review
- Fond farewell to clinical utility gene cards.European journal of human genetics : EJHG · 2021Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Most complex traits evolved in the ancestors of all modern humans and have been under negative or balancing selection to maintain the distribution of phenotypes observed today. Yet all large studies mapping genomes to complex traits occur in populations that have experienced the Out-of-Africa bottleneck. Does this bottleneck affect the way we characterise complex traits? We demonstrate using the 1000 Genomes dataset and hypothetical complex traits that genetic drift can strongly affect the joint distribution of effect size and SNP frequency, and that the bias can be positive or negative depending on subtle details. Characterisations that rely on this distribution therefore conflate genetic drift and selection. We provide a model to identify the underlying selection parameter in the presence of drift, and demonstrate that a simple sensitivity analysis may be enough to validate existing characterisations. We conclude that biobanks characterising more worldwide diversity would benefit studies of complex traits.
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Registered trials
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