Royal College of Surgeons in Ireland
Revealing the recent demographic history of Europe via haplotype sharing in the UK Biobank.pdf (2.11 MB)

Revealing the recent demographic history of Europe via haplotype sharing in the UK Biobank

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Haplotype-based analyses have recently been leveraged to interrogate the fine-scale structure in specific geographic regions, notably in Europe, although an equivalent haplotype-based understanding across the whole of Europe with these tools is lacking. Furthermore, study of identity-by-descent (IBD) sharing in a large sample of haplotypes across Europe would allow a direct comparison between different demographic histories of different regions. The UK Biobank (UKBB) is a population-scale dataset of genotype and phenotype data collected from the United Kingdom, with established sampling of worldwide ancestries. The exact content of these non-UK ancestries is largely uncharacterized, where study could highlight valuable intracontinental ancestry references with deep phenotyping within the UKBB. In this context, we sought to investigate the sample of European ancestry captured in the UKBB. We studied the haplotypes of 5,500 UKBB individuals with a European birthplace; investigated the population structure and demographic history in Europe, showing in parallel the variety of footprints of demographic history in different genetic regions around Europe; and expand knowledge of the genetic landscape of the east and southeast of Europe. Providing an updated map of European genetics, we leverage IBD-segment sharing to explore the extent of population isolation and size across the continent. In addition to building and expanding upon previous knowledge in Europe, our results show the UKBB as a source of diverse ancestries beyond Britain. These worldwide ancestries sampled in the UKBB may complement and inform researchers interested in specific communities or regions not limited to Britain.


National University of Ireland Post-Doctoral Fellowship in the Sciences and Engineering

Science Foundation Ireland (SFI) Centre for Research Training in Genomics Data Science under Grant number 18/CRT/6214

SFI under Grant Number 16/RC/3948

FutureNeuro industry partners

European Regional Development Fund


Data Availability Statement

UKBB genotype data can be accessed from the UKBB through the process specified at The Human Origins genotype data with population labels can be publicly accessed from the David Reich Lab at


The original article is available at

Published Citation

Gilbert E, Shanmugam A, Cavalleri GL. Revealing the recent demographic history of Europe via haplotype sharing in the UK Biobank. Proc Natl Acad Sci U S A. 2022;119(25):e2119281119

Publication Date

13 June 2022

PubMed ID



  • FutureNeuro Centre
  • School of Pharmacy and Biomolecular Sciences

Research Area

  • Neurological and Psychiatric Disorders
  • Population Health and Health Services


National Academy of Sciences


  • Published Version (Version of Record)