Evidence map›Paper›PMID 37117635›Full record

ArticleCommunications biology2023

The Newfoundland and Labrador mosaic founder population descends from an Irish and British diaspora from 300 years ago.

Edmund Gilbert, Heather Zurel, Margaret E MacMillan, Sedat Demiriz, Sadra Mirhendi, Michael Merrigan, Seamus O'Reilly, Anne M Molloy, Lawrence C Brody, Walter Bodmer and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Communications biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Article
  2. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

18 authors.

Edmund GilbertSchool of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland. edmundgilbert@rcsi.ie.ORCID 0000-0002-5574-4520
Heather ZurelSequence Bioinformatics, Inc., St. John's, Newfoundland and Labrador, Canada.ORCID 0000-0002-9916-8027
Margaret E MacMillanSequence Bioinformatics, Inc., St. John's, Newfoundland and Labrador, Canada.
Sedat DemirizSequence Bioinformatics, Inc., St. John's, Newfoundland and Labrador, Canada.ORCID 0009-0007-8685-8313
Sadra MirhendiSequence Bioinformatics, Inc., St. John's, Newfoundland and Labrador, Canada.ORCID 0009-0006-8411-8349
Michael MerriganGenealogical Society of Ireland, Dún Laoghaire, Ireland.
Seamus O'ReillyGenealogical Society of Ireland, Dún Laoghaire, Ireland.
Anne M MolloySchool of Medicine, Trinity College, Dublin, Ireland.
Lawrence C BrodyGenome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Walter BodmerWeatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.ORCID 0000-0001-6244-9792
Richard A LeachSequence Bioinformatics, Inc., St. John's, Newfoundland and Labrador, Canada.
Roderick E M ScottSequence Bioinformatics, Inc., St. John's, Newfoundland and Labrador, Canada.
Gerald MugfordSequence Bioinformatics, Inc., St. John's, Newfoundland and Labrador, Canada.
Ranjit RandhawaSequence Bioinformatics, Inc., St. John's, Newfoundland and Labrador, Canada.
J Claiborne StephensSequence Bioinformatics, Inc., St. John's, Newfoundland and Labrador, Canada.
Alison L SymingtonSequence Bioinformatics, Inc., St. John's, Newfoundland and Labrador, Canada.ORCID 0000-0002-5934-8891
Gianpiero L CavalleriSchool of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland.
Michael S PhillipsSequence Bioinformatics, Inc., St. John's, Newfoundland and Labrador, Canada.ORCID 0000-0002-3688-9601

Funding

The contribution folate and vitamin B12 genes to disease.ZIAHG000167 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BRODY, LAWRENCE C · 2009 to 2025
$17.6M
6 · The paper itself

Abstract

The founder population of Newfoundland and Labrador (NL) is a unique genetic resource, in part due to its geographic and cultural isolation, where historical records describe a migration of European settlers, primarily from Ireland and England, to NL in the 18th and 19th centuries. Whilst its historical isolation, and increased prevalence of certain monogenic disorders are well appreciated, details of the fine-scale genetic structure and ancestry of the population are lacking. Understanding the genetic origins and background of functional, disease causing, genetic variants would aid genetic mapping efforts in the Province. Here, we leverage dense genome-wide SNP data on 1,807 NL individuals to reveal fine-scale genetic structure in NL that is clustered around coastal communities and correlated with Christian denomination. We show that the majority of NL European ancestry can be traced back to the south-east and south-west of Ireland and England, respectively. We date a substantial population size bottleneck approximately 10-15 generations ago in NL, associated with increased haplotype sharing and autozygosity. Our results reveal insights into the population history of NL and demonstrate evidence of a population conducive to further genetic studies and biomarker discovery.

Indexed as

Genetics, PopulationWhite PeopleHuman MigrationHumansIrelandNewfoundland and Labrador

Identifiers

PMID37117635
PMCPMC10147672

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.