Evidence map›Paper›PMID 39799122›Full record

ArticleScientific data2025

Homo Sapiens Chromosomal Location Ontology: A Framework for Genomic Data in Biomedical Knowledge Graphs.

Taha Mohseni Ahooyi, Benjamin Stear, J Alan Simmons, Christopher M Nemarich, Jonathan C Silverstein, Deanne M Taylor

Abstract readDataset
In one paragraph

Article in Scientific data, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

6 authors.

Taha Mohseni AhooyiThe Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Benjamin StearThe Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0003-2972-0354
J Alan SimmonsDepartment of Biomedical Informatics, School of Medicine, The University of Pittsburgh, Pittsburgh, PA, USA.
Christopher M NemarichThe Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Jonathan C SilversteinDepartment of Biomedical Informatics, School of Medicine, The University of Pittsburgh, Pittsburgh, PA, USA.ORCID http://orcid.org/0000-0002-9252-6039
Deanne M TaylorThe Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. taylordm@chop.edu.ORCID http://orcid.org/0000-0002-3302-4610

Funding

Utilizing FHIR to expand the availability of interoperable clinical and phenotypic data to the pediatric research communityU2CHD109731 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI Adam Cain Resnick · 2022 to 2026
$31.6M
U2C Kids First Admin Supplement - data transferU2CHL138346 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI RESNICK, ADAM CAIN · 2017 to 2022
$21.5M
Kids First Data Resource Center (KFDRC): Harnessing Data-Driven Opportunities in the Present on behalf of the Future of Common Fund Data Ecosystem (CFDE)OT2OD030162 · OD · CHILDREN'S HOSP OF PHILADELPHIA · PI DIGIOVANNA, JACK, HEATH, ALLISON · 2020 to 2025
$10.7M
Flexible Hybrid Cloud Infrastructure for Seamless Management of HuBMAP Resources, Including Consortium-Wide and External EngagementOT2OD026675 · OD · CARNEGIE-MELLON UNIVERSITY · PI BLOOD, PHILIP D., SILVERSTEIN, JONATHAN C. · 2018 to 2021
$8.9M
HuBMAP Integration, Visualization and Engagement by Modular Integration of Novel Databases (HIVE-MIND) Collaboration Component (CC)OT2OD026663 · OD · UNIVERSITY OF SOUTH DAKOTA · PI LENHARDT, WILLIAM CHRISTOPHER, MABEE, PAULA M · 2018 to 2019
$585k
Leveraging Common Fund data for feature selection in Kids First studies.R03OD030600 · OD · CHILDREN'S HOSP OF PHILADELPHIA · PI TAYLOR, DEANNE MARIE · 2020 to 2020
$363k
NHLBI NIH HHS U2C HL138346NICHD NIH HHS U2C HD109731NIH HHS OT2 OD030162NIH HHS R03 OD030600U.S. Department of Health & Human Services | NIH | Office of Strategic Coordination (OSC) 1R03DE030186U.S. Department of Health & Human Services | NIH | Office of Strategic Coordination (OSC) 3OT2OD030162-01S2U.S. Department of Health & Human Services | NIH | Office of Strategic Coordination (OSC) 9U2CHD10973U.S. Department of Health & Human Services | NIH | Office of Strategic Coordination (OSC) OT2OD026663U.S. Department of Health & Human Services | NIH | Office of Strategic Coordination (OSC) OT2OD026675U.S. Department of Health & Human Services | NIH | Office of Strategic Coordination (OSC) OT2OD030162
6 · The paper itself

Abstract

The Homo sapiens Chromosomal Location Ontology (HSCLO) is designed to facilitate the integration of human genomic features into biomedical knowledge graphs from releases GRCh37 and GRCh38 at multiple resolutions. HSCLO comprises two distinct versions, HSCLO37 and HSCLO38, each tailored to its respective human genome release. This ontology supports the efficient integration and analysis of human genomic data across scales ranging from entire chromosomes to individual base pairs, thereby enhancing data retrieval and interoperability within large-scale biomedical datasets. Unlike existing ontologies that primarily focus on genomic feature identification or annotation, HSCLO is specifically engineered to optimize the interoperability and scalability of genomic data within biomedical knowledge graphs. The utility and performance of HSCLO are demonstrated through a case study involving the integration of high-resolution chromatin interaction data, which reveals significant improvements in query efficiency and data linkage. HSCLO represents a valuable resource for advancing research in disease genetics, personalized medicine, and other domains that require complex genomic data integration.

Indexed as

Chromosomes, HumanGene OntologyGenome, HumanGenomicsHumans

Identifiers

PMID39799122
PMCPMC11724927

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.