Evidence map›Paper›PMID 41359121›Full record

ArticleNucleic acids research2026

The IGVF catalog-from genetic variation to function.

Daofeng Li, Shane Liu, Pedro R Assis, Mingjie Li, Shengcheng Dong, Ian Whaling, Otto Jolanki, Meenakshi Kagda, Wenjin Zhang, Juan F Macias-Velasco and 37 more

Abstract read
In one paragraph

Article in Nucleic acids research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. A scalable approach to resolving variants of uncertain significance.bioRxiv : the preprint server for biology · 2026
    Article
  5. 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

47 authors.

Daofeng LiDepartment of Genetics, The Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis,MO 63110, United States.ORCID 0000-0001-7492-3703
Shane LiuDepartment of Genetics, The Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis,MO 63110, United States.
Pedro R AssisDepartment of Genetics, Stanford University, Stanford, CA 94305, United States.
Mingjie LiDepartment of Genetics, Stanford University, Stanford, CA 94305, United States.
Shengcheng DongDepartment of Genetics, Stanford University, Stanford, CA 94305, United States.
Ian WhalingDepartment of Genetics, Stanford University, Stanford, CA 94305, United States.
Otto JolankiDepartment of Genetics, Stanford University, Stanford, CA 94305, United States.
Meenakshi KagdaDepartment of Genetics, Stanford University, Stanford, CA 94305, United States.
Wenjin ZhangDepartment of Genetics, The Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis,MO 63110, United States.ORCID 0000-0002-5979-0102
Juan F Macias-VelascoDepartment of Genetics, The Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis,MO 63110, United States.
Tianjie LiuDepartment of Genetics, The Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis,MO 63110, United States.
Sarah CodyMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, United States.
Lucinda Antonacci-FultonMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, United States.
Yuanhao HuangDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109, United States.
Jie LiuDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109, United States.ORCID 0000-0002-9504-0587
Michael T MontgomeryDepartment of Genetics, Stanford University, Stanford, CA 94305, United States.ORCID 0000-0002-6748-2329
Daniel ZeibergInstitute for Experiential AI, Northeastern University, Boston, MA 02115, United States.
Shantanu JainInstitute for Experiential AI, Northeastern University, Boston, MA 02115, United States.
Vikas PejaverInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States.
Timothy BergquistInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States.
Yile ChenDepartment of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA 98195, United States.
Predrag RadivojacKhoury College of Computer Sciences, Northeastern University, Boston, MA 02115, United States.ORCID 0000-0002-6769-0793
Charles A GersbachDepartment of Biomedical Engineering, and Center for Advanced Genomic Technologies, Duke University, Durham, NC 27708, United States.ORCID 0000-0003-1478-4013
Rintsen N SherpaDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109, United States.
Christopher P CastroDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109, United States.
Alan P BoyleDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109, United States.ORCID 0000-0002-2081-1105
Lea M StaritaDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, United States.ORCID 0000-0003-2870-5099
Douglas M FowlerDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, United States.ORCID 0000-0001-7614-1713
Nadav AhituvDepartment of Bioengineering and Therapeutic Sciences, Institute for Human Genetics, University of California San Francisco, San Francisco, CA 94158, United States.ORCID 0000-0002-7434-8144
Kushal K DeyComputational and Systems Biology Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065, United States.
William H MajorosDepartment of Biostatistics and Bioinformatics, Duke University Medical Center, Durham, NC 27710, United States.ORCID 0000-0001-7284-9335
Timothy E ReddyDepartment of Biostatistics and Bioinformatics, Duke University Medical Center, Durham, NC 27710, United States.
Mark CravenDepartment of Biostatistics and Medical Informatics, University of Wisconsin, Madison, WI 53706, United States.
Riya SinhaDepartment of Genetics, Stanford University, Stanford, CA 94305, United States.
Yuriy SverchkovDepartment of Biostatistics and Medical Informatics, University of Wisconsin, Madison, WI 53706, United States.ORCID 0000-0002-9851-8582
Xiangmeng CaiDepartment of Genetics, Stanford University, Stanford, CA 94305, United States.
Mpathi Z NzimaCecil H. and Ida Green Center for Reproductive Biology Sciences, University of Texas Southwestern Medical Center, Dallas, TX 75390, United States.
Michael A CalderwoodCenter for Cancer Systems Biology (CCSB) & Department of Cancer Biology, Dana-Farber Cancer Institute and Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA 02215, United States.ORCID 0000-0001-6475-1418
Joel RozowskyDepartment of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06520, United States.
Mark GersteinDepartment of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06520, United States.ORCID 0000-0002-9746-3719
Jian MaRay and Stephanie Lane Computational Biology Department, School of Computer Science, Carnegie Mellon University, Pittsburgh, PA 15213, United States.ORCID 0000-0002-4202-5834
Feng YueDepartment of Biochemistry and Molecular Genetics, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, United States.ORCID 0000-0002-7954-5462
J Michael CherryDepartment of Genetics, Stanford University, Stanford, CA 94305, United States.ORCID 0000-0001-9163-5180
Michael I LoveDepartment of Genetics, University of North Carolina, Chapel Hill, NC 27599, United States.ORCID 0000-0001-8401-0545
Jesse M EngreitzDepartment of Genetics, Stanford University, Stanford, CA 94305, United States.ORCID 0000-0002-5754-1719
Benjamin C HitzDepartment of Genetics, Stanford University, Stanford, CA 94305, United States.ORCID 0000-0003-3361-3594
Ting WangDepartment of Genetics, The Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis,MO 63110, United States.ORCID 0000-0002-6800-242X

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI SELWYN M VICKERS · 1985 to 2026
$347.4M
Support for the use and evaluation of large cloud-based genomic datasets.U24HG012012 · NHGRI · STANFORD UNIVERSITY · PI Mark Bender Gerstein, Benjamin Hitz · 2021 to 2026
$23.0M
Single-cell Mapping Center for Human Regulatory Elements and Gene ActivityUM1HG012076 · NHGRI · STANFORD UNIVERSITY · PI Michael Ryan Corces, Ansuman Satpathy · 2021 to 2026
$13.8M
Center for Mouse Genomic Variation at Single Cell ResolutionUM1HG012077 · NHGRI · UNIVERSITY OF CALIFORNIA-IRVINE · PI Seyed Ali Mortazavi, BARBARA J WOLD · 2021 to 2026
$13.7M
A Foundational Resource of Functional Elements, TF footprints and Gene Regulatory InteractionsUM1HG011986 · NHGRI · BROAD INSTITUTE, INC. · PI BRADLEY Evan BERNSTEIN, Jason Daniel Buenrostro · 2021 to 2026
$13.3M
High-Throughput Functional Annotation of Gene Regulatory Elements and Variants Critical to Complex Cellular PhenotypesUM1HG012053 · NHGRI · DUKE UNIVERSITY · PI GREGORY E CRAWFORD, Charles A. Gersbach · 2021 to 2026
$10.7M
Stanford Center for Connecting DNA Variants to Function and PhenotypeUM1HG011972 · NHGRI · STANFORD UNIVERSITY · PI JESSE M ENGREITZ, THOMAS QUERTERMOUS · 2021 to 2026
$10.5M
Multiscale functional characterization of genomic variation in human developmental disordersUM1HG011996 · NHGRI · UT SOUTHWESTERN MEDICAL CENTER · PI Gary Chung Hon, WILLIAM Lee KRAUS · 2021 to 2026
$10.5M
Comprehensive characterization of variants underlying heart and blood diseases with CRISPR base editingUM1HG012010 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI Daniel Evan Bauer, Luca Pinello · 2021 to 2026
$10.4M
The Center for Actionable Variant Analysis; measuring variant function at scaleUM1HG011969 · NHGRI · UNIVERSITY OF WASHINGTON · PI Douglas M Fowler, Lea Starita · 2021 to 2026
$9.9M
Systematic in vivo characterization of disease-associated regulatory variantsUM1HG012003 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Michael Isaiah Love, KAREN L. MOHLKE · 2021 to 2026
$9.9M
Molecular phenotyping of ~100,000 coding variants across Mendelian disease genesUM1HG011989 · NHGRI · DANA-FARBER CANCER INST · PI Marc Vidal · 2021 to 2026
$9.9M
NCI NIH HHS P30 CA008748NHGRI NIH HHS U01 HG011952NHGRI NIH HHS U01 HG011967NHGRI NIH HHS U01 HG012009NHGRI NIH HHS U01 HG012022NHGRI NIH HHS U01 HG012039NHGRI NIH HHS U01 HG012041NHGRI NIH HHS U01 HG012047NHGRI NIH HHS U01 HG012051NHGRI NIH HHS U01 HG012059NHGRI NIH HHS U01 HG012064NHGRI NIH HHS U01 HG012069NHGRI NIH HHS U01 HG012079NHGRI NIH HHS U01 HG012103NHGRI NIH HHS U24 HG012012NHGRI NIH HHS U24 HG012070NHGRI NIH HHS UM1 HG011966NHGRI NIH HHS UM1 HG011969NHGRI NIH HHS UM1 HG011972NHGRI NIH HHS UM1 HG011986NHGRI NIH HHS UM1 HG011989NHGRI NIH HHS UM1 HG011996NHGRI NIH HHS UM1 HG012003NHGRI NIH HHS UM1 HG012010NHGRI NIH HHS UM1 HG012053NHGRI NIH HHS UM1 HG012076NHGRI NIH HHS UM1 HG012077NIH HHS U01HG011952NIH HHS U01HG011967NIH HHS U01HG012009NIH HHS U01HG012022NIH HHS U01HG012039NIH HHS U01HG012041NIH HHS U01HG012047NIH HHS U01HG012051NIH HHS U01HG012059NIH HHS U01HG012064NIH HHS U01HG012069NIH HHS U01HG012079NIH HHS U01HG012103NIH HHS U24HG012012NIH HHS U24HG012070NIH HHS UM1HG011966NIH HHS UM1HG011969NIH HHS UM1HG011972NIH HHS UM1HG011986NIH HHS UM1HG011989NIH HHS UM1HG011996NIH HHS UM1HG012003NIH HHS UM1HG012010NIH HHS UM1HG012053NIH HHS UM1HG012076NIH HHS UM1HG012077
6 · The paper itself

Abstract

Genomic variation between individuals is essential for understanding how differences in the genome sequence affect molecular and cellular processes. The Impact of Genomic Variation on Function (IGVF) Consortium aims to uncover the relationships among genomic variation, genome function, and phenotypes by combining experimental techniques, such as single-cell mapping and genomic perturbation assays, with computational approaches such as machine learning-based predictive modeling. The IGVF Data and Administrative Coordinating Centers collect, analyze, and disseminate data and results from across the consortium through an open-source platform called the IGVF Catalog. This resource includes, but is not limited to, data on the effects of coding variants on protein abundance and function, noncoding variants on enhancer activity (measured by MPRA or predicted computationally), and associations between variants and quantitative traits. All data are organized within a graph database comprising over 50 types of data collections with nearly 3 billion nodes and over 7.5 billion edges. The Catalog offers public API endpoints (https://api.catalogkg.igvf.org/) and a user-friendly interface for exploring, querying, and visualizing the data at https://catalog.igvf.org. We expect that this open-access platform will support the broader scientific community to advance our understanding of how genomic variation influences biology and disease.

Indexed as

Databases, GeneticGenetic VariationGenomicsHumansPhenotypeQuantitative Trait LociSoftware

Identifiers

PMID41359121
PMCPMC12807646

What OpenQuestion holds

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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 OpenQuestion graph.