ArticleAmerican journal of human genetics2018
Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- Leveraging Northern European population history: novel low-frequency variants for polycystic ovary syndrome.Human reproduction (Oxford, England) · 2022Pooled it
- Population genomics, demography, and circum-Baltic connectivity of Early Medieval southwestern Finland.Genome biology · 2026Article
- Using the ancestral recombination graph to study the history of rare variants in founder populations.American journal of human genetics · 2025Article
- Repeat Variants, Biomarkers, and Molecular Signatures in Parkinson's Disease:International journal of molecular sciences · 2025Article
- Archaeogenetics reveals fine-scale genetic continuity and patterns of kinship and health in medieval Finland.iScience · 2025Article
- Population-based study of recurrent DNA damage response gene variants in breast cancer cases.Breast cancer research and treatment · 2025Article
- Identification and functional characterisation of DNA methylation differences between East- and West-originating Finns.Epigenetics · 2024Article
- Somatic mutation phasing and haplotype extension using linked-reads in multiple myeloma.bioRxiv : the preprint server for biology · 2024Article
- Complex trait susceptibilities and population diversity in a sample of 4,145 Russians.Nature communications · 2024Article
- HLA Genetics for the Human Diseases.Advances in experimental medicine and biology · 2024Review
- Cohort profile: SUPER-Finland - the Finnish study for hereditary mechanisms of psychotic disorders.BMJ open · 2023Article
- NovelCancers · 2023Article
- Human leukocyte antigen super-locus: nexus of genomic supergenes, SNPs, indels, transcripts, and haplotypes.Human genome variation · 2022Review
- The Finnish genetic heritage in 2022 - from diagnosis to translational research.Disease models & mechanisms · 2022Review
- Demographic history differences between Hispanics and Brazilians imprint haplotype features.G3 (Bethesda, Md.) · 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
- Reconstructing the history of founder events using genome-wide patterns of allele sharing across individuals.PLoS genetics · 2022Article
- A genealogical estimate of genetic relationships.American journal of human genetics · 2022Article
- Genome-wide risk prediction of common diseases across ancestries in one million people.Cell genomics · 2022Article
- Genotype imputation and polygenic score estimation in northwestern Russian population.PloS one · 2022Article
Corrections and comments
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Authors and funding
27 authors at 13 institutions in 5 countries.
Funding
Abstract
Finland provides unique opportunities to investigate population and medical genomics because of its adoption of unified national electronic health records, detailed historical and birth records, and serial population bottlenecks. We assembled a comprehensive view of recent population history (≤100 generations), the timespan during which most rare-disease-causing alleles arose, by comparing pairwise haplotype sharing from 43,254 Finns to that of 16,060 Swedes, Estonians, Russians, and Hungarians from geographically and linguistically adjacent countries with different population histories. We find much more extensive sharing in Finns, with at least one ≥ 5 cM tract on average between pairs of unrelated individuals. By coupling haplotype sharing with fine-scale birth records from more than 25,000 individuals, we find that although haplotype sharing broadly decays with geographical distance, there are pockets of excess haplotype sharing; individuals from northeast Finland typically share several-fold more of their genome in identity-by-descent segments than individuals from southwest regions. We estimate recent effective population-size changes through time across regions of Finland, and we find that there was more continuous gene flow as Finns migrated from southwest to northeast between the early- and late-settlement regions than was dichotomously described previously. Lastly, we show that haplotype sharing is locally enriched by an order of magnitude among pairs of individuals sharing rare alleles and especially among pairs sharing rare disease-causing variants. Our work provides a general framework for using haplotype sharing to reconstruct an integrative view of recent population history and gain insight into the evolutionary origins of rare variants contributing to disease.
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Registered trials
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