Evidence map›Paper›PMID 41956073›Full record

ArticleCell genomics2026

ClinGen API platform for classification of human genetic variants.

Neethu Shah, Tierra Farris, Arturo Alejandro Zuniga, Andrew R Jackson, Jessie Arce, Kevin Riehle, Christine G Preston, Mark E Mandell, Bryan Wulf, Gloria Cheung and 16 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cell genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

26 authors.

Neethu ShahDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
Tierra FarrisDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
Arturo Alejandro ZunigaDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
Andrew R JacksonDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
Jessie ArceDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
Kevin RiehleDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
Christine G PrestonDepartment of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA.
Mark E MandellDepartment of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA.
Bryan WulfDepartment of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA.
Gloria CheungDepartment of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA.
Keyang YuDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
Deborah I RitterDepartment of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Dubravka JevticPersida Inc., 1180 46th Street, Brooklyn, NY 11219, USA.
Miroslav MilinkovPersida Inc., 1180 46th Street, Brooklyn, NY 11219, USA.
Novak MartinovicPersida Inc., 1180 46th Street, Brooklyn, NY 11219, USA.
Nevena VucinicPersida Inc., 1180 46th Street, Brooklyn, NY 11219, USA.
Aleksandar MihajlovicPersida Inc., 1180 46th Street, Brooklyn, NY 11219, USA.
Alan F RubinBioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia.
Melissa S ClineUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.
Marina DistefanoMedical and Population Genetics Group, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Malachi GriffithWashington University School of Medicine, St. Louis, MO 63110, USA.
Obi L GriffithWashington University School of Medicine, St. Louis, MO 63110, USA.
Matt W WrightDepartment of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA.
Teri E KleinDepartment of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA.
Sharon E PlonDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Aleksandar MilosavljevicDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA. Electronic address: amilosav@bcm.edu.

Funding

Baylor College of Medicine/Stanford University Clinical Genome Resource (CLINGEN)U24HG009649 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI TERI Ellen KLEIN, Aleksandar Milosavljevic · 2021 to 2026
$31.5M
Standardized and Genome-Wide Clinical Interpretation of Complex Genotypes for Cancer Precision MedicineU24CA237719 · NCI · WASHINGTON UNIVERSITY · PI GRIFFITH, OBI L. · 2019 to 2023
$3.8M
Text Mining and Large Language Models for AI-Driven Evidence-Based Functional Annotation of Clinical VariantsU24CA275783 · NCI · WASHINGTON UNIVERSITY · PI Malachi Griffith, Obi L. Griffith · 2023 to 2026
$2.6M
Accelerating the expert-crowdsourcing of cancer variant interpretation in CIViCU24CA305456 · NCI · WASHINGTON UNIVERSITY · PI Malachi Griffith, Obi L. Griffith · 2025 to 2026
$2.0M
Genomic Expert Curation Panels for Pediatric MalignanciesU24CA258115 · NCI · WASHINGTON UNIVERSITY · PI GRIFFITH, MALACHI, GRIFFITH, OBI L. · 2022 to 2024
$870k
NCI NIH HHS U24 CA237719NCI NIH HHS U24 CA258115NCI NIH HHS U24 CA275783NCI NIH HHS U24 CA305456NHGRI NIH HHS U24 HG009649
6 · The paper itself

Abstract

In this commentary, we describe how the Clinical Genome Resource's (ClinGen's) application programming interface-based microservices accelerate growth and dissemination of knowledge about human genetic variation. By exposing findable, accessible, interoperable, reusable, and AI-ready variant data, ClinGen lays a foundation for next-generation software applications, AI systems, and variant classification workflows.

Indexed as

Genetic VariationGenome, HumanSoftwareDatabases, GeneticGenomicsHumans

Identifiers

PMID41956073
PMCPMC13069835

What OpenQuestion 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 OpenQuestion graph.