Evidence map›Paper›PMID 38965376›Full record

ArticleNature human behaviour2024

Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation.

Caitlin E Carey, Rebecca Shafee, Robbee Wedow, Amanda Elliott, Duncan S Palmer, John Compitello, Masahiro Kanai, Liam Abbott, Patrick Schultz, Konrad J Karczewski and 9 more

Abstract read
In one paragraph

Article in Nature human behaviour, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed, 1 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

18 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Variant-to-gene mapping identifiesbioRxiv : the preprint server for biology · 2026
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  11. Review
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  13. The activity and expression of adenylosuccinate lyase were reduced during modern human evolution, affecting brain and behavior.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  14. Article
  15. Article
  16. Family study of bipolar disorder with comorbid anxiety disorder points toPCN reports : psychiatry and clinical neurosciences · 2025
    Article
  17. Article
  18. Genetic implication of GABAFrontiers in pharmacology · 2025
    Review
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

19 authors.

Caitlin E CareyStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. cemcarey@gmail.com.ORCID http://orcid.org/0000-0002-4953-5351
Rebecca ShafeeStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0009-0007-1897-3272
Robbee WedowStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-3108-7087
Amanda ElliottStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Duncan S PalmerStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-0824-0047
John CompitelloStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Masahiro KanaiStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-5165-4408
Liam AbbottStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Patrick SchultzStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Konrad J KarczewskiStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-2878-4671
Samuel C BryantStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0009-0001-9891-0488
Caroline M CusickStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Claire ChurchhouseStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-3140-6452
Daniel P HowriganStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-7721-4838
Daniel KingStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
George Davey SmithProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-1407-8314
Benjamin M Neale *Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-1513-6077
Raymond K Walters *Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. rwalters@broadinstitute.org.ORCID http://orcid.org/0000-0001-8422-6530
Elise B Robinson *Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-2314-2792

Funding

Wave IV Data CollectionP01HD031921 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HARRIS, KATHLEEN MULLAN · 1994 to 2020
$86.1M
Statistical methods for studies of rare variantsR01MH101244 · NIMH · HARVARD MEDICAL SCHOOL · PI Benjamin Michael Neale, ALKES L PRICE · 2013 to 2026
$9.4M
Statistical methods to localize disease heritability and identify biological mechanismsR37MH107649 · NIMH · BROAD INSTITUTE, INC. · PI Benjamin Michael Neale · 2019 to 2026
$7.0M
2/7 Psychiatric Genomics Consortium: Advancing Discovery and ImpactR01MH124851 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI BOERGLUM, ANDERS, DAVIS, LEA K · 2021 to 2025
$5.4M
Add Health: A Genotype and Phenotype Resource for the Global Scientific CommunityR01HD073342 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HARRIS, KATHLEEN MULLAN · 2012 to 2016
$3.6M
Social Demographic Moderation of Genome Wide Associations for Body Mass IndexR01HD060726 · NICHD · UNIVERSITY OF COLORADO · PI BOARDMAN, JASON D, MCQUEEN, MATTHEW B · 2010 to 2014
$2.7M
NICHD NIH HHS P01 HD031921NICHD NIH HHS R01 HD060726NICHD NIH HHS R01 HD073342NIMH NIH HHS R01 MH101244NIMH NIH HHS R01 MH124851NIMH NIH HHS R37 MH107649Novo Nordisk Fonden (Novo Nordisk Foundation) NNF21SA0072102U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) 5R37MH107649U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) R01MH101244U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) R01MH124851
6 · The paper itself

Abstract

Data within biobanks capture broad yet detailed indices of human variation, but biobank-wide insights can be difficult to extract due to complexity and scale. Here, using large-scale factor analysis, we distill hundreds of variables (diagnoses, assessments and survey items) into 35 latent constructs, using data from unrelated individuals with predominantly estimated European genetic ancestry in UK Biobank. These factors recapitulate known disease classifications, disentangle elements of socioeconomic status, highlight the relevance of psychiatric constructs to health and improve measurement of pro-health behaviours. We go on to demonstrate the power of this approach to clarify genetic signal, enhance discovery and identify associations between underlying phenotypic structure and health outcomes. In building a deeper understanding of ways in which constructs such as socioeconomic status, trauma, or physical activity are structured in the dataset, we emphasize the importance of considering the interwoven nature of the human phenome when evaluating public health patterns.

Indexed as

Biological Specimen BanksPhenotypeFemaleHumansMaleMiddle AgedSocial ClassUK BiobankUnited Kingdom

Identifiers

PMID38965376
PMCPMC11343713

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.