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Haplotype Sharing P...
Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland
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- Martin, Alicia R (author)
- Massachusetts General Hospital
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- Karczewski, Konrad J (author)
- Massachusetts General Hospital
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- Kerminen, Sini (author)
- University of Helsinki
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- Kurki, Mitja I (author)
- University of Helsinki
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- Sarin, Antti-Pekka (author)
- University of Helsinki
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- Artomov, Mykyta (author)
- Massachusetts General Hospital
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- Eriksson, Johan G (author)
- University of Helsinki,Broad Institute
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- Esko, Tõnu (author)
- University of Tartu
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- Genovese, Giulio (author)
- Broad Institute
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- Havulinna, Aki S (author)
- University of Helsinki
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- Kaprio, Jaakko (author)
- University of Helsinki
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- Konradi, Alexandra (author)
- Almazov Medical Research Center
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Korányi, László (author)
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- Kostareva, Anna (author)
- Karolinska Institutet,Almazov Medical Research Center
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- Männikkö, Minna (author)
- University of Oulu,Broad Institute
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- Metspalu, Andres (author)
- University of Tartu
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- Perola, Markus (author)
- University of Helsinki,University of Tartu,University of Turku
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- Prasad, Rashmi B (author)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital
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- Raitakari, Olli (author)
- Turku University Hospital
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- Rotar, Oxana (author)
- Almazov Medical Research Center
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- Salomaa, Veikko (author)
- Finnish National Institute for Health and Welfare
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- Groop, Leif (author)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,University of Helsinki,Skåne University Hospital
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- Palotie, Aarno (author)
- Broad Institute,University of Helsinki
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- Neale, Benjamin M (author)
- Broad Institute
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- Ripatti, Samuli (author)
- University of Helsinki
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- Pirinen, Matti (author)
- University of Helsinki
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- Daly, Mark J (author)
- Massachusetts General Hospital,Broad Institute,University of Helsinki
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(creator_code:org_t)
- Elsevier BV, 2018
- 2018
- English 16 s.
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In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 102:5, s. 760-775
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http://dx.doi.org/10...
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http://www.cell.com/...
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Abstract
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
Keyword
- Journal Article
Publication and Content Type
- art (subject category)
- ref (subject category)
Find in a library
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- By the author/editor
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Martin, Alicia R
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Karczewski, Konr ...
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Kerminen, Sini
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Kurki, Mitja I
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Sarin, Antti-Pek ...
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Artomov, Mykyta
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show more...
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Eriksson, Johan ...
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Esko, Tõnu
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Genovese, Giulio
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Havulinna, Aki S
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Kaprio, Jaakko
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Konradi, Alexand ...
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Korányi, László
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Kostareva, Anna
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Männikkö, Minna
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Metspalu, Andres
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Perola, Markus
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Prasad, Rashmi B
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Raitakari, Olli
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Rotar, Oxana
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Salomaa, Veikko
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Groop, Leif
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Palotie, Aarno
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Neale, Benjamin ...
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Ripatti, Samuli
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Pirinen, Matti
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Daly, Mark J
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Endocrinology an ...
- Articles in the publication
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American Journal ...
- By the university
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Lund University
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Karolinska Institutet