Evidence map›Paper›PMID 38663031›Full record

ReviewAnnual review of biomedical data science2024

Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.

Matt W Wright, Courtney L Thaxton, Tristan Nelson, Marina T DiStefano, Juliann M Savatt, Matthew H Brush, Gloria Cheung, Mark E Mandell, Bryan Wulf, T J Ward and 20 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Annual review of biomedical data science, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
–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

16 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Guideline
  2. Article
  3. Review
  4. Review
  5. Article
  6. Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026
    Article
  7. Article
  8. Genomics in Health and Biomedicine.Advances in experimental medicine and biology · 2026
    Review
  9. Global Health and Genomics.The Nursing clinics of North America · 2025
    Review
  10. ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. 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

30 authors.

Matt W WrightDepartment of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu.
Courtney L ThaxtonDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu.
Tristan NelsonGeisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu.
Marina T DiStefanoMedical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Juliann M SavattGeisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu.
Matthew H BrushDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Gloria CheungDepartment of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu.
Mark E MandellDepartment of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu.
Bryan WulfDepartment of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu.
T J WardDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu.
Scott GoehringerGeisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu.
Terry O'NeillMedical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Phil WellerGeisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu.
Christine G PrestonDepartment of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu.
Ingrid M KeselerDepartment of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu.
Jennifer L GoldsteinDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu.
Natasha T StrandeGeisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu.
Jennifer McGlaughonDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu.
Danielle R AzzaritiMedical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Ineke CordovaGeisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu.
Hannah DziadzioMedical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Lawrence BabbMedical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Kevin RiehleDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Aleksandar MilosavljevicDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Christa Lese MartinGeisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu.
Heidi L RehmMedical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Sharon E PlonDepartment of Pediatrics, Division of Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA.
Jonathan S BergDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu.
Erin R RiggsGeisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu.
Teri E KleinDepartments of Medicine (Biomedical Informatics Research) and Genetics, Stanford University School of Medicine, Stanford, California, USA.

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
The Clinical Genome Resource – Advancing genomic medicine through biocuration and expert assessment of genes and variants at scaleU24HG009650 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI JONATHAN S BERG, Jessica Ezzell Hunter · 2021 to 2026
$30.0M
ClinGen AI Data Delivery SupplementU24HG006834 · NHGRI · BROAD INSTITUTE, INC. · PI Marina DiStefano, CHRISTA LESE MARTIN · 2021 to 2026
$26.7M
NHGRI NIH HHS U24 HG006834NHGRI NIH HHS U24 HG009649NHGRI NIH HHS U24 HG009650
6 · The paper itself

Abstract

Clinical genetic laboratories must have access to clinically validated biomedical data for precision medicine. A lack of accessibility, normalized structure, and consistency in evaluation complicates interpretation of disease causality, resulting in confusion in assessing the clinical validity of genes and genetic variants for diagnosis. A key goal of the Clinical Genome Resource (ClinGen) is to fill the knowledge gap concerning the strength of evidence supporting the role of a gene in a monogenic disease, which is achieved through a process known as Gene-Disease Validity curation. Here we review the work of ClinGen in developing a curation infrastructure that supports the standardization, harmonization, and dissemination of Gene-Disease Validity data through the creation of frameworks and the utilization of common data standards. This infrastructure is based on several applications, including the ClinGen GeneTracker, Gene Curation Interface, Data Exchange, GeneGraph, and website.

Indexed as

Databases, GeneticGenetic Diseases, InbornGenetic Predisposition to DiseaseHumansPrecision Medicinebiocurationclinical geneticsdata harmonizationdata standardsprecision medicineresearch informatics

Identifiers

PMID38663031
PMCPMC12001867

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.