ArticleNature2021
Genome-wide enhancer maps link risk variants to disease genes.
Open access · greenAbstract read
In one paragraph
Article in Nature, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 426 papers, 5 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
426citing papers in PubMed, 5 pooled it
52.2field-weighted citation impact, top 1% of its field
What it found
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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.
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.
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Who cites it
426 citing papers in PubMed, 5 syntheses or guidelines pooled it, 725 citations in OpenAlex.
- Investigating the shared genetic architecture between selective immunoglobulin A deficiency and autoimmune diseases.Human genetics · 2026Pooled it
- Genetic study identifies novel genes in developmental dysplasia of the hip.Bone research · 2026Pooled it
- Genome-wide association study provides insights into the genetic basis of Lewy body dementia.Molecular psychiatry · 2025Pooled it
- Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes.Nature genetics · 2025Pooled it
- Pooled it
- Comparing bulk and single-cell methodologies and models to profile gene expression, chromatin accessibility and regulatory links in endothelial cells treated with TNFα.Biochemistry and biophysics reports · 2026Article
- HiFIseek: Gene-specific enrichment of high-impact mutations in associated genomic regions.PLoS computational biology · 2026Article
- Single-cell analysis of chromatin accessibility in the human intestine identifies regulatory programs and clarifies genetic associations in Crohn's disease.Nature genetics · 2026Article
- Prioritizing context-specific genetic risk mechanisms in 11 solid cancers.Journal of the National Cancer Institute · 2026Article
- Genome-wide mapping of common and rare variant effects on adiposity across childhood.Nature genetics · 2026Article
- Non-Coding Negative Regulatory Features in Livestock Genomes: Functional Annotation and Causal Validation.Animals : an open access journal from MDPI · 2026Review
- TheiScience · 2026Article
- Identifying independent causal cell types for human diseases and risk variants.Cell genomics · 2026Article
- GenoME: a MoE-based generative model for individualized, multimodal prediction and perturbation of genomic profiles.Nucleic acids research · 2026Article
- Article
- Genomic language model for predicting enhancers and their allele-specific activity in the human genome.Bioinformatics (Oxford, England) · 2026Article
- Inherited Susceptibility to Urinary Tract Infections from Kidney Papilla to Bladder.medRxiv : the preprint server for health sciences · 2026Article
- Locus-specific stratification and prioritization unveil genetic risk mechanism underlying complex diseases.Nature communications · 2026Article
- Genome-wide DNA methylation analysis revealed epigenetic mechanism underlying end-stage renal disease.Nature communications · 2026Article
- High-resolution promoter interaction analysis implicates genes involved in activation of type 3 innate lymphoid cells in immune disease risk.Nature genetics · 2026Article
366 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
32 authors at 4 institutions in 3 countries.
Joseph Nasser *Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Drew T Bergman *Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-8314-7088
Charles P Fulco *Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Philine Guckelberger *Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-1057-2518
Benjamin R Doughty *Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Tejal A PatwardhanBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Thouis R JonesBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Tung H NguyenBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Jacob C UlirschBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-7947-0827
Fritz LekschasHarvard John A. Paulson School of Engineering and Applied Sciences, Harvard University, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-8432-4835
Kristy MualimDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Heini M NatriDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Elle M WeeksBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-4317-4444
Glen MunsonBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Michael KaneBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Helen Y KangDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Ang CuiBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-1087-8568
John P RayBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-7294-4260
Thomas M EisenhaureBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Ryan L CollinsBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-1268-9995
Kushal DeyDepartment of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, MA, USA.
Hanspeter PfisterHarvard John A. Paulson School of Engineering and Applied Sciences, Harvard University, Cambridge, MA, USA.
Alkes L PriceBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-2971-7975
Charles B EpsteinBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-8358-8345
Anshul KundajeDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.ORCID http://orcid.org/0000-0003-3084-2287
Ramnik J XavierBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-5630-5167
Mark J DalyBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-0949-8752
Hailiang HuangBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Hilary K FinucaneBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-3864-9828
Nir HacohenBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-2349-2656
Eric S LanderBroad Institute of MIT and Harvard, Cambridge, MA, USA. lander@broadinstitute.org.ORCID http://orcid.org/0000-0003-2662-4631
Jesse M EngreitzBroad Institute of MIT and Harvard, Cambridge, MA, USA. engreitz@stanford.edu.ORCID http://orcid.org/0000-0002-5754-1719
Broad Institute · USHarvard University · USStanford University · USLucile Packard Children's Hospital · US
Funding
Pilot & Feasibility ProgramP30DK043351 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI Ramnik J Xavier · 1991 to 2026
$35.3M4D Nucleome Network Data Coordination and Integration CenterU01CA200059 · NCI · HARVARD MEDICAL SCHOOL · PI PARK, PETER J · 2015 to 2024
$24.4MCenter for Cell CircuitsP50HG006193 · NHGRI · BROAD INSTITUTE, INC. · PI REGEV, AVIV · 2011 to 2015
$15.6MEDAC: ENCODE Data Analysis CenterU24HG009446 · NHGRI · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI GERSTEIN, MARK BENDER, WENG, ZHIPING · 2017 to 2022
$10.4MStatistical methods for studies of rare variantsR01MH101244 · NIMH · HARVARD MEDICAL SCHOOL · PI Benjamin Michael Neale, ALKES L PRICE · 2013 to 2026
$9.4MStatistical methods to localize disease heritability and identify biological mechanismsR37MH107649 · NIMH · BROAD INSTITUTE, INC. · PI Benjamin Michael Neale · 2019 to 2026
$7.0MFunctionally specialized components of disease heritability in ENCODE dataU01HG009379 · NHGRI · HARVARD SCHOOL OF PUBLIC HEALTH · PI PRICE, ALKES L, RAYCHAUDHURI, SOUMYA · 2017 to 2021
$2.5MMapping enhancer-gene regulation in single cells to connect genetic variants to target genes and cell typesR35HG011324 · NHGRI · STANFORD UNIVERSITY · PI ENGREITZ, JESSE M · 2020 to 2024
$2.3MSystematic mapping and prediction of gene-enhancer connectionsR00HG009917 · NHGRI · STANFORD UNIVERSITY · PI ENGREITZ, JESSE M · 2020 to 2022
$796kGenetics and gene regulation in the inflammatory bowel diseasesK01DK114379 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI HUANG, HAILIANG · 2017 to 2021
$632kPrioritizing and Characterizing T Cell-Relevant Genetic Variants Associated with Autoimmune DiseasesK22AI153648 · NIAID · BENAROYA RESEARCH INST AT VIRGINIA MASON · PI RAY, JOHN PHILIP · 2021 to 2022
$270kSystematic mapping and prediction of gene-enhancer connectionsK99HG009917 · NHGRI · BROAD INSTITUTE, INC. · PI ENGREITZ, JESSE M · 2018 to 2019
$65kNCI NIH HHS U01 CA200059NHGRI NIH HHS K99 HG009917NHGRI NIH HHS P50 HG006193NHGRI NIH HHS R00 HG009917NHGRI NIH HHS R35 HG011324NHGRI NIH HHS U01 HG009379NHGRI NIH HHS U24 HG009446NIAID NIH HHS K22 AI153648NIDDK NIH HHS K01 DK114379NIDDK NIH HHS P30 DK043351NIMH NIH HHS R01 MH101244NIMH NIH HHS R37 MH107649
Abstract
Genome-wide association studies (GWAS) have identified thousands of noncoding loci that are associated with human diseases and complex traits, each of which could reveal insights into the mechanisms of disease
Indexed as
Genetic Predisposition to DiseaseGenome-Wide Association StudyCell LineChromosomes, Human, Pair 10CyclophilinsDendritic CellsEnhancer Elements, GeneticFemaleGenetic VariationGenome, HumanHumansInflammatory Bowel DiseasesMacrophagesMaleMitochondriaOrgan SpecificityCyclophilinsPeptidyl-Prolyl Isomerase DPPID protein, human
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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.