Evidence map›Paper›PMID 40442285›Full record

ReviewNature genetics2025

Realizing the promise of genome-wide association studies for effector gene prediction.

Maria C Costanzo, Laura W Harris, Yue Ji, Aoife McMahon, Noël P Burtt, Jason Flannick

Abstract readReview
In one paragraph

Review in Nature genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing 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

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

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Article
  6. Review
  7. Genetic analysis of neurodegenerative diseases.The Journal of clinical investigation · 2026
    Review
  8. Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
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

6 authors.

Maria C CostanzoPrograms in Metabolism and Medical and Population Genetics, the Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-9043-693X
Laura W HarrisEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.ORCID http://orcid.org/0000-0003-4312-7223
Yue JiEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.ORCID http://orcid.org/0000-0001-9844-7297
Aoife McMahonEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.ORCID http://orcid.org/0000-0003-0978-0309
Noël P BurttPrograms in Metabolism and Medical and Population Genetics, the Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jason FlannickPrograms in Metabolism and Medical and Population Genetics, the Broad Institute of MIT and Harvard, Cambridge, MA, USA. jason.flannick@childrens.harvard.edu.ORCID http://orcid.org/0000-0002-3618-795X

Funding

The next iteration of the AMP-T2D Knowledge PortalUM1DK105554 · NIDDK · BROAD INSTITUTE, INC. · PI BOEHNKE, MICHAEL L, BURTT, NOEL P · 2020 to 2025
$18.5M
Strengthening community knowledge bases for genetic association studies and polygenic scores, the GWAS and PGS CatalogsU24HG012542 · NHGRI · EUROPEAN MOLECULAR BIOLOGY LABORATORY · PI Michael Inouye, Helen Elizabeth Parkinson · 2022 to 2026
$5.2M
In vivo and in vitro rare coding variant analyses to identify modulations of the adipocyte differentiation pathway that affect T2D riskR01DK125490 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI Jason Flannick · 2020 to 2026
$3.9M
The Association to Function Knowledge Portal: a genomic data resource for translating GWAS associations to biological effectsU24HG011453 · NHGRI · BROAD INSTITUTE, INC. · PI BURTT, NOEL P, FLANNICK, JASON · 2021 to 2025
$3.4M
NHGRI NIH HHS U24 HG011453NHGRI NIH HHS U24 HG012542NIDDK NIH HHS R01 DK125490NIDDK NIH HHS UM1 DK105554U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) 1U24HG012542-01U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) 5U24HG011453U.S. Department of Health & Human Services | NIH | National Institute of Diabetes and Digestive and Kidney Diseases (National Institute of Diabetes & Digestive & Kidney Diseases) 2UM1DK105554
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) identify regions of the genome in which genetic variation is associated with the risk of complex diseases, such as diabetes, or the magnitude of traits, such as blood pressure. Determining which 'effector genes' mediate the effects of GWAS associations is essential to using GWAS to understand disease mechanisms and develop new therapies. In recent years, GWAS authors have increasingly included effector gene predictions as part of their study results. However, the research community has not yet converged on standards for generating or reporting these predictions. In this Perspective, we illustrate the diversity of the evidence types used to support effector gene predictions and argue for future initiatives to increase their accessibility and usefulness.

Indexed as

Genome-Wide Association StudyGenetic Predisposition to DiseaseGenetic VariationHumansPolymorphism, Single Nucleotide

Identifiers

PMID40442285
PMCPMC12286715

What Socratic holds

Textmetadata
LicenceTDM
Read underepoch 390

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 Socratic graph.