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  • Martin, Alicia RMassachusetts General Hospital (author)

Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland

  • Article/chapterEnglish2018

Publisher, publication year, extent ...

  • Elsevier BV,2018
  • 16 s.

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:d0d474ac-0092-46dd-8f2d-7cb0ded791d8
  • https://lup.lub.lu.se/record/d0d474ac-0092-46dd-8f2d-7cb0ded791d8URI
  • https://doi.org/10.1016/j.ajhg.2018.03.003DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:138275963URI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • 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 and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Karczewski, Konrad JMassachusetts General Hospital (author)
  • Kerminen, SiniUniversity of Helsinki (author)
  • Kurki, Mitja IUniversity of Helsinki (author)
  • Sarin, Antti-PekkaUniversity of Helsinki (author)
  • Artomov, MykytaMassachusetts General Hospital (author)
  • Eriksson, Johan GUniversity of Helsinki,Broad Institute (author)
  • Esko, TõnuUniversity of Tartu (author)
  • Genovese, GiulioBroad Institute (author)
  • Havulinna, Aki SUniversity of Helsinki (author)
  • Kaprio, JaakkoUniversity of Helsinki (author)
  • Konradi, AlexandraAlmazov Medical Research Center (author)
  • Korányi, László (author)
  • Kostareva, AnnaKarolinska Institutet,Almazov Medical Research Center (author)
  • Männikkö, MinnaUniversity of Oulu,Broad Institute (author)
  • Metspalu, AndresUniversity of Tartu (author)
  • Perola, MarkusUniversity of Tartu,University of Turku,University of Helsinki(Swepub:lu)med-mkp (author)
  • Prasad, Rashmi BLund University,Lunds universitet,Translationell Muskel Forskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital(Swepub:lu)med-rpa (author)
  • Raitakari, OlliTurku University Hospital (author)
  • Rotar, OxanaAlmazov Medical Research Center (author)
  • Salomaa, VeikkoFinnish National Institute for Health and Welfare (author)
  • Groop, LeifLund University,Lunds universitet,Translationell Muskel Forskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,University of Helsinki,Skåne University Hospital(Swepub:lu)endo-lgr (author)
  • Palotie, AarnoBroad Institute,University of Helsinki(Swepub:lu)med-aop (author)
  • Neale, Benjamin MBroad Institute (author)
  • Ripatti, SamuliUniversity of Helsinki(Swepub:lu)med-sur (author)
  • Pirinen, MattiUniversity of Helsinki (author)
  • Daly, Mark JBroad Institute,Massachusetts General Hospital,University of Helsinki(Swepub:lu)med-mkd (author)
  • Massachusetts General HospitalUniversity of Helsinki (creator_code:org_t)

Related titles

  • In:American Journal of Human Genetics: Elsevier BV102:5, s. 760-7750002-92971537-6605

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