Evidence map›Paper›PMID 38000386›Full record

ArticleNucleic acids research2024

The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species.

Tim E Putman, Kevin Schaper, Nicolas Matentzoglu, Vincent P Rubinetti, Faisal S Alquaddoomi, Corey Cox, J Harry Caufield, Glass Elsarboukh, Sarah Gehrke, Harshad Hegde and 34 more

Open access · goldAbstract read
In one paragraph

Article in Nucleic acids research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers.

0numbers the graph read from it
0cells of the map it votes in
86citing papers in PubMed
13.5field-weighted citation impact, top 1% of its field
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

86 citing papers in PubMed, 88 citations in OpenAlex.

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  18. Review
  19. PheBee: A Graph-Aware System for Scalable, Traceable, and Semantic Phenotyping.medRxiv : the preprint server for health sciences · 2026
    Article
  20. Article

26 more citing papers are in PubMed but not listed here.

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

44 authors at 10 institutions in 4 countries.

Tim E PutmanDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0002-4291-0737
Kevin SchaperDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0003-3311-7320
Nicolas MatentzogluIndependent Consultant, Semanticly, Athens, Greece.ORCID 0000-0002-7356-1779
Vincent P RubinettiDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0002-4655-3773
Faisal S AlquaddoomiDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0003-4297-8747
Corey CoxDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0001-9042-5982
J Harry CaufieldEnvironmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.ORCID 0000-0001-5705-7831
Glass ElsarboukhDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0001-8272-7198
Sarah GehrkeDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0003-3245-2880
Harshad HegdeEnvironmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.ORCID 0000-0002-2411-565X
Justin T ReeseEnvironmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.ORCID 0000-0002-2170-2250
Ian BraunData Collaboration Center, Critical Path Institute, Tucson, AZ 85718, USA.ORCID 0000-0002-2389-9288
Richard M BruskiewichSTAR Informatics, Delphinai Corporation, Sooke, BC V9Z 0M3, Canada.ORCID 0000-0002-4447-5978
Luca CappellettiBiology, University of Fribourg, Fribourg, Switzerland.ORCID 0000-0002-1269-2038
Seth CarbonEnvironmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.ORCID 0000-0001-8244-1536
Anita R CaronEuropean Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.ORCID 0000-0002-6523-4866
Lauren E ChanCollege of Public Health and Human Sciences, Oregon State University, Corvallis, OR 97331, USA.ORCID 0000-0002-7463-6306
Christopher G ChuteSchools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD 21205, USA.ORCID 0000-0001-5437-2545
Katherina G CortesDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0002-9489-3158
Vinícius De SouzaEuropean Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.ORCID 0000-0003-3961-0247
Tommaso FontanaDipartimento di Informatica, Università degli Studi di Milano Statale, Milano, Italy.ORCID 0000-0002-9806-3493
Nomi L HarrisEnvironmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.ORCID 0000-0001-6315-3707
Emily L HartleyData Collaboration Center, Critical Path Institute, Tucson, AZ 85718, USA.ORCID 0000-0001-5839-2535
Eric HurwitzDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0002-6581-7754
Julius O B JacobsenWilliam Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.ORCID 0000-0002-3265-1591
Madan KrishnamurthyDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0002-9767-3636
Bryan J LarawayDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
James A McLaughlinEuropean Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.ORCID 0000-0002-8361-2795
Julie A McMurryDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0002-9353-5498
Sierra A T MoxonEnvironmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.ORCID 0000-0002-8719-7760
Kathleen R MullenDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0002-5002-8648
Shawn T O'NeilDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0001-6220-7080
Kent A ShefchekDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0001-6439-2224
Ray StefancsikEuropean Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.ORCID 0000-0001-8314-2140
Sabrina ToroDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0002-4142-7153
Nicole A VasilevskyData Collaboration Center, Critical Path Institute, Tucson, AZ 85718, USA.ORCID 0000-0001-5208-3432
Ramona L WallsData Collaboration Center, Critical Path Institute, Tucson, AZ 85718, USA.ORCID 0000-0001-8815-0078
Patricia L WhetzelDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0002-3458-4839
David Osumi-SutherlandEuropean Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.
Damian SmedleyWilliam Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.ORCID 0000-0002-5836-9850
Peter N RobinsonThe Jackson Laboratory for Genomic Medicine, Farmington, CT 6032, USA.ORCID 0000-0002-0736-9199
Christopher J MungallEnvironmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.ORCID 0000-0002-6601-2165
Melissa A HaendelDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0001-9114-8737
Monica C Munoz-TorresDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.ORCID 0000-0001-8430-6039
University of Colorado Anschutz Medical Campus · USLawrence Berkeley National Laboratory · USEuropean Bioinformatics Institute · GBCritical Path Institute · USQueen Mary University of London · GBJackson Laboratory · USJohns Hopkins University · USOregon State University · USUniversity of Fribourg · CHUniversity of Milan · IT

Funding

The Monarch Initiative: Linking Diseases to Model Organism ResourcesR24OD011883 · OD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HAENDEL, MELISSA A, MUNGALL, CHRISTOPHER J · 2012 to 2024
$16.0M
Computational Bioscience Program Training GrantT15LM009451 · NLM · UNIVERSITY OF COLORADO DENVER · PI Katherina Kechris-Mays, Arjun Krishnan · 2007 to 2026
$11.7M
Improvements to the LinkML framework to support the Phenomics First open science resourceRM1HG010860 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HAENDEL, MELISSA A, MUNGALL, CHRISTOPHER J · 2020 to 2024
$10.3M
The Human Phenotype Ontology: Accelerating Computational Integration of Clinical Data for GenomicsU24HG011449 · NHGRI · JACKSON LABORATORY · PI Peter Nicholas Robinson · 2021 to 2026
$6.7M
NHGRI NIH HHS 5RM1HG010860-04NHGRI NIH HHS RM1 HG010860NHGRI NIH HHS U24 HG011449NIH HHS R24 OD011883NLM NIH HHS T15 LM009451NLM NIH HHS T15LM009451
6 · The paper itself

Abstract

Bridging the gap between genetic variations, environmental determinants, and phenotypic outcomes is critical for supporting clinical diagnosis and understanding mechanisms of diseases. It requires integrating open data at a global scale. The Monarch Initiative advances these goals by developing open ontologies, semantic data models, and knowledge graphs for translational research. The Monarch App is an integrated platform combining data about genes, phenotypes, and diseases across species. Monarch's APIs enable access to carefully curated datasets and advanced analysis tools that support the understanding and diagnosis of disease for diverse applications such as variant prioritization, deep phenotyping, and patient profile-matching. We have migrated our system into a scalable, cloud-based infrastructure; simplified Monarch's data ingestion and knowledge graph integration systems; enhanced data mapping and integration standards; and developed a new user interface with novel search and graph navigation features. Furthermore, we advanced Monarch's analytic tools by developing a customized plugin for OpenAI's ChatGPT to increase the reliability of its responses about phenotypic data, allowing us to interrogate the knowledge in the Monarch graph using state-of-the-art Large Language Models. The resources of the Monarch Initiative can be found at monarchinitiative.org and its corresponding code repository at github.com/monarch-initiative/monarch-app.

Indexed as

Databases, FactualDiseaseGenesPhenotypeHumansInternetSoftware

Identifiers

PMID38000386
PMCPMC10767791
OpenAlexW4389004870

What Socratic holds

Textmetadata
LicenceCC BY
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.