Evidence map›Paper›PMID 38167104›Full record

ArticleGenome biology2024

FORGEdb: a tool for identifying candidate functional variants and uncovering target genes and mechanisms for complex diseases.

Charles E Breeze, Eric Haugen, María Gutierrez-Arcelus, Xiaozheng Yao, Andrew Teschendorff, Stephan Beck, Ian Dunham, John Stamatoyannopoulos, Nora Franceschini, Mitchell J Machiela and 1 more

Abstract read
In one paragraph

Article in Genome biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing 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

28 citing papers in PubMed.

  1. Article
  2. ESR1 as a candidate gene for adolescent idiopathic scoliosis pathogenesis in North-West Indian population.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2026
    Article
  3. Characterization of Genetic Etiologic Factors for Pediatric Acute Lymphoblastic Leukemia in Large Childhood Cancer Survivorship Cohorts.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026
    Article
  4. Article
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  8. Smoking drives an epigenetic memory of aberrant hematopoiesis.medRxiv : the preprint server for health sciences · 2026
    Article
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  15. Interplay Between 3D Chromatin Architecture and Gene Regulation at theInternational journal of molecular sciences · 2025
    Article
  16. Characterization of mEuropean journal of medical research · 2025
    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

11 authors.

Charles E BreezeDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20892, USA. c.breeze@ucl.ac.uk.ORCID 0000-0002-5294-915X
Eric HaugenAltius Institute for Biomedical Sciences, 2211 Elliott Avenue 98121, Seattle, USA.
María Gutierrez-ArcelusDivision of Immunology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Xiaozheng YaoDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Andrew TeschendorffCAS Key Lab of Computational Biology, Shanghai Institute for Biological Sciences, CAS-MPG Partner Institute for Computational Biology, Chinese Academy of Sciences, 320 Yue Yang Road, Shanghai, 200031, China.
Stephan BeckUCL Cancer Institute, University College London, 72 Huntley Street, London, WC1E 6BT, UK.
Ian DunhamEuropean Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
John StamatoyannopoulosAltius Institute for Biomedical Sciences, 2211 Elliott Avenue 98121, Seattle, USA.
Nora FranceschiniDepartment of Epidemiology, University of North Carolina, Chapel Hill, NC, USA.
Mitchell J MachielaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Sonja I BerndtDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20892, USA.

Funding

Leveraging ancestry to map kidney lociR01MD012765 · NIMHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI FRANCESCHINI, NORA · 2017 to 2021
$3.6M
Genetics of kidney disease in diverse populationsR01DK117445 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI FRANCESCHINI, NORA · 2018 to 2022
$2.7M
NIDDK NIH HHS R01 DK117445NIMHD NIH HHS R01 MD012765Wellcome TrustWellcome Trust 218274/Z/19/Z
6 · The paper itself

Abstract

The majority of disease-associated variants identified through genome-wide association studies are located outside of protein-coding regions. Prioritizing candidate regulatory variants and gene targets to identify potential biological mechanisms for further functional experiments can be challenging. To address this challenge, we developed FORGEdb ( https://forgedb.cancer.gov/ ; https://forge2.altiusinstitute.org/files/forgedb.html ; and https://doi.org/10.5281/zenodo.10067458 ), a standalone and web-based tool that integrates multiple datasets, delivering information on associated regulatory elements, transcription factor binding sites, and target genes for over 37 million variants. FORGEdb scores provide researchers with a quantitative assessment of the relative importance of each variant for targeted functional experiments.

Indexed as

Genome-Wide Association StudyRegulatory Sequences, Nucleic AcidPolymorphism, Single NucleotideProtein BindingActivity-by-contact (ABC)CRISPR (clustered regularly interspaced short palindromic repeats)DNase-seqExpression quantitative trait locus (eQTL)Functional annotationGene regulationGenome-wide association study (GWAS)Massively parallel reporter assay (MPRA)Regulatory elementsSingle guide RNA (sgRNA)Transcription factor (TF)Variant scoring

Identifiers

PMID38167104
PMCPMC10763681

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.