ArticleNature2021
Regulatory genomic circuitry of human disease loci by integrative epigenomics.
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Article in Nature, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 272 papers, 2 of them syntheses that pooled it.
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0cells of the map it votes in
272citing papers in PubMed, 2 pooled it
–field-weighted citation impact
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.
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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
272 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Genome-wide association meta-analysis identifies five loci associated with postpartum hemorrhage.Nature genetics · 2024Pooled it
- Meta-analysis of erosive hand osteoarthritis identifies four common variants that associate with relatively large effect.Annals of the rheumatic diseases · 2023Pooled it
- Prioritizing context-specific genetic risk mechanisms in 11 solid cancers.Journal of the National Cancer Institute · 2026Article
- Identifying independent causal cell types for human diseases and risk variants.Cell genomics · 2026Article
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- Bridging precision agriculture and human medicine through comparative genetics.Nature reviews. Genetics · 2026Review
- 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
- Mapping enhancer-gene regulatory interactions from single-cell data.Nature genetics · 2026Article
- Nanopore sequencing identifies parent-of-origin specific age-associated methylation changes at imprinted loci in the human genome.Nature communications · 2026Article
- Type 2 diabetes genetics in 125,000 admixed adults from Mexico City.medRxiv : the preprint server for health sciences · 2026Article
- Long-term isolation and archaic introgression shape functional genetic variation in Near Oceania.Science (New York, N.Y.) · 2026Article
- Multi-ancestry transcriptome-wide association study reveals shared and population-specific genetic effects in Alzheimer disease.American journal of human genetics · 2026Article
- Computational modelling of cell identity.The Biochemical journal · 2026Review
- Increased Arrhythmic Risk in Obesity Is Transduced by Adipose Tissue-Derived Extracellular Vesicles.JACC. Basic to translational science · 2026Article
- Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression.Nature communications · 2026Article
- Massively parallel reporter assay-informed modeling improves prediction of context-specific enhancer-gene regulatory interactions.Nucleic acids research · 2026Article
- Genotype epigenome phenotype integration reveals peripheral immune contributions to type I bipolar disorder.Nature communications · 2026Article
- Dissecting Alzheimer's disease heterogeneity by cross-trait polygenic prediction.bioRxiv : the preprint server for biology · 2026Article
212 more citing papers are in PubMed but not listed here.
Corrections and comments
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- Erratum issued
Authors and funding
5 authors.
Carles A BoixComputer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-9212-856X
Benjamin T JamesComputer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-6228-055X
Yongjin P ParkComputer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA.
Wouter MeulemanAltius Institute for Biomedical Sciences, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-1196-5401
Manolis KellisComputer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA. manoli@mit.edu.ORCID http://orcid.org/0000-0001-7113-9630
Funding
GENCODE Resource ProjectU41HG007234 · NHGRI · SANGER INSTITUTE · PI FLICEK, PAUL · 2013 to 2020
$20.3MGENCODE: comprehensive reference genome annotation for human and mouseU24HG007234 · NHGRI · EUROPEAN MOLECULAR BIOLOGY LABORATORY · PI Fergal James Martin · 2021 to 2026
$16.1MEDAC: ENCODE Data Analysis CenterU24HG009446 · NHGRI · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI GERSTEIN, MARK BENDER, WENG, ZHIPING · 2017 to 2022
$10.4MEpigenomic, transcriptional and cellular dissection of Alzheimer's variantsR01AG058002 · NIA · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI HYMAN, BRADLEY T., JAENISCH, RUDOLF · 2017 to 2021
$7.9MPowering whole genome sequence-based genetic discovery for common human diseases- Extended 2021-2022.U01HG009088 · NHGRI · HARVARD SCHOOL OF PUBLIC HEALTH · PI LIN, XIHONG, NEALE, BENJAMIN MICHAEL · 2016 to 2021
$5.1MGraduate Training in Computational and Systems BiologyT32GM087237 · NIGMS · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI BURGE, CHRISTOPHER B · 2009 to 2023
$4.6MEpigenomic variation atlas across human tissues and individuals in GTExU01HG007610 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI KELLIS, MANOLIS · 2014 to 2016
$3.0MInterpreting non-coding variants using epigenomics, regulatory models, & validation experimentsR01HG008155 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI KELLIS, MANOLIS · 2015 to 2017
$2.3MNetwork-based prediction and validation of causal schizophrenia genes and variantsR01MH109978 · NIMH · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI EGGAN, KEVIN C, KELLIS, MANOLIS · 2016 to 2020
$2.1MElucidation of the organizing principles of the regulatory genome through large-scale data integrationR35HG011317 · NHGRI · ALTIUS INSTITUTE FOR BIOMEDICAL SCIENCES · PI MEULEMAN, WOUTER · 2020 to 2024
$1.8MComparative analysis and regulatory architecture of epigenomics datasetsR01GM113708 · NIGMS · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI KELLIS, MANOLIS · 2015 to 2017
$852kSingle Cell Transcriptional and Epigenomic Dissection of Schizophrenia and Bipoloar DiseaseU01MH119509 · NIMH · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI KELLIS, MANOLIS · 2019 to 2019
$625kNHGRI NIH HHS R01 HG008155NHGRI NIH HHS R35 HG011317NHGRI NIH HHS U01 HG007610NHGRI NIH HHS U01 HG009088NHGRI NIH HHS U24 HG007234NHGRI NIH HHS U24 HG009446NHGRI NIH HHS U41 HG007234NIA NIH HHS R01 AG058002NIGMS NIH HHS R01 GM113708NIGMS NIH HHS T32 GM087237NIH HHS AG058002NIH HHS GM087237NIH HHS GM113708NIH HHS HG007234NIH HHS HG007610NIH HHS HG008155NIH HHS HG009088NIH HHS HG009446NIH HHS MH109978NIH HHS MH119509NIMH NIH HHS R01 MH109978NIMH NIH HHS U01 MH119509
Abstract
Annotating the molecular basis of human disease remains an unsolved challenge, as 93% of disease loci are non-coding and gene-regulatory annotations are highly incomplete
Indexed as
EpigenomicsChromatinDiseaseEnhancer Elements, GeneticEpigenesis, GeneticFemaleGene Regulatory NetworksGenetic LociGenome-Wide Association StudyHumansMaleMultifactorial InheritanceOrgan SpecificityReproducibility of ResultsChromatin
Identifiers
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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.