ArticleEuropean journal of human genetics : EJHG2020
Differences in local population history at the finest level: the case of the Estonian population.
Article in European journal of human genetics : EJHG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed.
- A large mass grave from the Early Iron Age indicates selective violence towards women and children in the Carpathian Basin.Nature human behaviour · 2026Article
- Machine learning prediction of hypertension integrating polygenic risk scores in inner Eurasian populations.Frontiers in cardiovascular medicine · 2026Article
- Genetic effects on migration behavior contribute to increasing spatial differentiation at trait-associated loci in Estonia.iScience · 2025Article
- Use of Estonian Biobank data and participant recall to improve Wilson's disease management.European journal of human genetics : EJHG · 2025Article
- Full-length gene polymorphism of the non-classical HLA-E in Estonian individuals.Immunogenetics · 2025Article
- Plasma Metabolic Outliers Identified in Estonian Human Knockouts.Metabolites · 2025Article
- The Estonian Biobank's journey from biobanking to personalized medicine.Nature communications · 2025Review
- PANE: fast and reliable ancestral reconstruction on ancient genotype data with non-negative least square and principal component analysis.Genome biology · 2025Article
- North Pontic crossroads: Mobility in Ukraine from the Bronze Age to the early modern period.Science advances · 2025Article
- Ancestral genetic components are consistently associated with the complex trait landscape in European biobanks.European journal of human genetics : EJHG · 2024Article
- Gene pool preservation across time and space In Mongolian-speaking Oirats.European journal of human genetics : EJHG · 2024Article
- gwid: an R package and Shiny application for Genome-Wide analysis of IBD data.Bioinformatics advances · 2024Article
- The Newfoundland and Labrador mosaic founder population descends from an Irish and British diaspora from 300 years ago.Communications biology · 2023Article
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- Prioritizing autoimmunity risk variants for functional analyses by fine-mapping mutations under natural selection.Nature communications · 2022Article
- Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.Life science alliance · 2022Article
- Revealing the recent demographic history of Europe via haplotype sharing in the UK Biobank.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- A Principal Component Informed Approach to Address Polygenic Risk Score Transferability Across European Cohorts.Frontiers in genetics · 2022Article
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Authors and funding
21 authors.
Funding
Abstract
Several recent studies detected fine-scale genetic structure in human populations. Hence, groups conventionally treated as single populations harbour significant variation in terms of allele frequencies and patterns of haplotype sharing. It has been shown that these findings should be considered when performing studies of genetic associations and natural selection, especially when dealing with polygenic phenotypes. However, there is little understanding of the practical effects of such genetic structure on demography reconstructions and selection scans when focusing on recent population history. Here we tested the impact of population structure on such inferences using high-coverage (~30×) genome sequences of 2305 Estonians. We show that different regions of Estonia differ in both effective population size dynamics and signatures of natural selection. By analyzing identity-by-descent segments we also reveal that some Estonian regions exhibit evidence of a bottleneck 10-15 generations ago reflecting sequential episodes of wars, plague and famine, although this signal is virtually undetected when treating Estonia as a single population. Besides that, we provide a framework for relating effective population size estimated from genetic data to actual census size and validate it on the Estonian population. This approach may be widely used both to cross-check estimates based on historical sources as well as to get insight into times and/or regions with no other information available. Our results suggest that the history of human populations within the last few millennia can be highly region specific and cannot be properly studied without taking local genetic structure into account.
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