Evidence map›Paper›PMID 41193809›Full record

ArticleNature2026

Specificity, length and luck drive gene rankings in association studies.

Jeffrey P Spence, Hakhamanesh Mostafavi, Mineto Ota, Nikhil Milind, Tamara Gjorgjieva, Courtney J Smith, Yuval B Simons, Guy Sella, Jonathan K Pritchard

Abstract read
In one paragraph

Article in Nature, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
33citing 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

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

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Genetic mechanisms of mitotic error in 840,853 blood genomes.medRxiv : the preprint server for health sciences · 2026
    Article
  8. Genetic architectures of brain-related traits are shaped by strong selective constraints.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Principled measures and estimates of trait polygenicity.American journal of human genetics · 2026
    Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors.

Jeffrey P Spence *Department of Genetics, Stanford University, Stanford, CA, USA. jeff.spence@ucsf.edu.ORCID 0000-0002-3199-1447
Hakhamanesh Mostafavi *Department of Genetics, Stanford University, Stanford, CA, USA. Hakhamanesh.Mostafavi@nyulangone.org.ORCID 0000-0002-1060-2844
Mineto OtaDepartment of Genetics, Stanford University, Stanford, CA, USA. mineto-ota@g.ecc.u-tokyo.ac.jp.ORCID 0000-0003-4552-8573
Nikhil MilindDepartment of Genetics, Stanford University, Stanford, CA, USA.
Tamara GjorgjievaDepartment of Genetics, Stanford University, Stanford, CA, USA.
Courtney J SmithDepartment of Genetics, Stanford University, Stanford, CA, USA.ORCID 0000-0002-7812-0083
Yuval B SimonsDepartment of Genetics, Stanford University, Stanford, CA, USA.
Guy SellaDepartment of Biological Sciences, Columbia University, New York, NY, USA.
Jonathan K PritchardDepartment of Genetics, Stanford University, Stanford, CA, USA. pritch@stanford.edu.ORCID 0000-0002-8828-5236

Funding

Integration of genetic association mapping and functional data to elucidate genetic mechanisms of diseaseR01HG008140 · NHGRI · STANFORD UNIVERSITY · PI JONATHAN K PRITCHARD · 2016 to 2026
$7.3M
Predicting context-specific molecular and phenotypic effects of genetic variation through the lens of the cis-regulatory codeU01HG012069 · NHGRI · STANFORD UNIVERSITY · PI Anshul Kundaje · 2021 to 2026
$3.9M
New methods for constructing and evaluating polygenic scoresR01HG011432 · NHGRI · STANFORD UNIVERSITY · PI PRITCHARD, JONATHAN K · 2020 to 2023
$3.3M
The population genetics of disease risk and other quantitative traitsR01GM115889 · NIGMS · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI SELLA, GUY · 2015 to 2025
$2.9M
Bayesian estimation of gene effects on traits from coding variantsR01HG014005 · NHGRI · STANFORD UNIVERSITY · PI JONATHAN K PRITCHARD · 2025 to 2026
$1.3M
Deconstructing the Genetic Basis of Complex Trait VariationR35GM157134 · NIGMS · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI Hakhamanesh Mostafavi · 2025 to 2026
$848k
NHGRI NIH HHS R01 HG008140NHGRI NIH HHS R01 HG011432NHGRI NIH HHS R01 HG014005NHGRI NIH HHS U01 HG012069NIGMS NIH HHS R01 GM115889NIGMS NIH HHS R35 GM157134
6 · The paper itself

Abstract

Standard genome-wide association studies (GWAS) and rare variant burden tests are essential tools for identifying trait-relevant genes

Indexed as

Genome-Wide Association StudyQuantitative Trait, HeritableQuantitative Trait LociBiological Specimen BanksGenetic PleiotropyHumansPhenotypeUnited Kingdom

Identifiers

PMID41193809
PMCPMC12823407

What OpenQuestion holds

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Registered trials

None linked

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.