Evidence map›Paper›PMID 40968291›Full record

SynthesisNature genetics2025

Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects.

Konrad J Karczewski, Rahul Gupta, Masahiro Kanai, Wenhan Lu, Kristin Tsuo, Ying Wang, Raymond K Walters, Patrick Turley, Shawneequa Callier, Nirav N Shah and 19 more

Abstract readMeta-Analysis
In one paragraph

Synthesis in Nature genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 113 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
113citing papers in PubMed, 6 pooled it
–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

113 citing papers in PubMed, 6 syntheses or guidelines pooled it.

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53 more citing papers are in PubMed but not listed here.

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

29 authors.

Konrad J Karczewski *Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-2878-4671
Rahul Gupta *Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-8263-2455
Masahiro Kanai *Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-5165-4408
Wenhan LuProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-3048-9658
Kristin TsuoProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Ying WangProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-7808-6279
Raymond K WaltersAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0001-8422-6530
Patrick TurleyDepartment of Economics, University of Southern California, Los Angeles, CA, USA.
Shawneequa CallierDepartment of Clinical Research and Leadership, The George Washington University, Washington, DC, USA.ORCID http://orcid.org/0000-0002-1007-333X
Nirav N ShahDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Nikolas BayaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-4681-374X
Duncan S PalmerProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jacqueline I GoldsteinProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Gopal SarmaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Matthew SolomonsonProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Nathan ChengProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Sam BryantProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0009-0001-9891-0488
Claire ChurchhouseProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-3140-6452
Caroline M CusickProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Timothy PoterbaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
John CompitelloProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Daniel KingProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-3319-9733
Wei ZhouProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-7719-0859
Cotton SeedProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Hilary K FinucaneProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-3864-9828
Mark J DalyProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-0949-8752
Benjamin M NealeProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-1513-6077
Elizabeth G AtkinsonDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0002-6308-776X
Alicia R MartinProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. armartin@broadinstitute.org.ORCID http://orcid.org/0000-0003-0241-3522

Funding

Statistical methods to localize disease heritability and identify biological mechanismsR37MH107649 · NIMH · BROAD INSTITUTE, INC. · PI Benjamin Michael Neale · 2019 to 2026
$7.0M
Generalizing polygenic risk prediction methods across populations for insights into psychiatric diseaseR00MH117229 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI MARTIN, ALICIA · 2020 to 2022
$724k
A framework enabling the genomic analysis of psychiatric traits across admixed populations.K01MH121659 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI ATKINSON, ELIZABETH GRACE · 2019 to 2022
$719k
The role of mitochondrial dysfunction in age-related disease: a human genetic approachF30AG074507 · NIA · HARVARD MEDICAL SCHOOL · PI GUPTA, RAHUL · 2021 to 2025
$186k
Integrating polygenic and environmental risk factors for asthma in diverse populationsF31HL167378 · NHLBI · HARVARD MEDICAL SCHOOL · PI TSUO, KRISTIN MAY · 2023 to 2024
$79k
Broad Institute BroadIgniteNHLBI NIH HHS F31 HL167378NIA NIH HHS F30 AG074507NIMH NIH HHS K01 MH121659NIMH NIH HHS R00 MH117229NIMH NIH HHS R37 MH107649U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) F31HL167378U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) K01MH121659U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) R00MH117229U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) R37MH107649U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging) F30AG074507
6 · The paper itself

Abstract

Large biobanks, such as the UK Biobank (UKB), enable massive phenome by genome-wide association studies that elucidate genetic etiology of complex traits. However, people from diverse genetic ancestry groups are often excluded from association analyses due to concerns about population structure introducing false positive associations. Here we generate mixed model associations and meta-analyses across genetic ancestry groups, inclusive of a larger fraction of the UK Biobank than previous efforts, to produce freely available summary statistics for 7,266 traits. We build a quality control and analysis framework informed by genetic architecture. Overall, we identify 14,676 significant loci (P < 5 × 10

Indexed as

Biological Specimen BanksGenome-Wide Association StudyGenetic Predisposition to DiseaseHumansPhenotypePolymorphism, Single NucleotideUK BiobankUnited Kingdom

Identifiers

PMID40968291
PMCPMC13192283

What OpenQuestion holds

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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.