Evidence map›Paper›PMID 40909852›Full record

ArticlemedRxiv : the preprint server for health sciences2025

ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International Platform.

D I Ritter, M Mandell, C Preston, M DiStefano, S M Bryant, N Carstens, R S Julius, A Lumaka, M Hedge, J Ngeow and 4 more

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. 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

5 · Who and what money

Authors and funding

14 authors.

D I RitterBaylor College of Medicine.ORCID 0009-0005-2930-4010
M MandellStanford University.
C PrestonStanford University.
M DiStefanoMedical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA USA.
S M BryantBaylor College of Medicine.
N CarstensUniversity of the Witwatersrand/NHLS Division of Human Genetics.
R S JuliusUniversity of Cape Town.
A LumakaUniversity of Kinshasa.
M HedgeRevvity Inc.
J NgeowLee Kong Chian School of Medicine, Nanyang Technological University Singapore and Cancer Genetics Service, National Cancer Centre Singapore.ORCID 0000-0003-1558-3627
J MoralesNational Human Genome Research Institute.
M W WrightStanford University.
H L RehmMedical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA USA.ORCID 0000-0002-6025-0015
S E PlonBaylor College of Medicine.ORCID 0000-0002-9626-0936

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
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 HG009649
6 · The paper itself

Abstract

Introduction: The Clinical Genome Resource (ClinGen) is creating a central resource of clinically relevant genetic knowledge to improve genomic medicine. Dissemination and use of the ClinGen Resource is essential to ensure broad community uptake. We report on experiences and sustained use of ClinGen tools through engaging international genetics groups based in India, Africa and Singapore in variant classification training workshops using the ClinGen Variant Curation Interface (VCI). Methods: We developed pre and post workshop questionnaires and analyzed ClinGen tool use following the workshops. We evaluated organizational aspects and costs of creating a dedicated ClinGen VCI instance for each workshop. Results: The workshops yielded >200 participants, with local scientists as essential participants. While ~55% of participants were unfamiliar with variant classification, we found ~79% were likely to use the VCI after the workshop. Further, we identified about ~10% of workshop participants created permanent accounts. We estimate costs at ~$3 per VCI instance. Discussion: Our efforts highlight the yield of international workshops to sustained use of ClinGen's curation tools, and identify areas for future consideration such as creating user-groups by experience level, and the importance of local scientist engagement in workshop deployment and organizational aspects.

Identifiers

PMID40909852
PMCPMC12407666

What Socratic holds

Textmetadata
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.