Evidence map›Paper›PMID 42070089›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2026

ClinGen variant curation interface workshops: Training variant scientists on an international platform.

Deborah I Ritter, Mark Mandell, Christine Preston, Marina DiStefano, Sahia M Bryant, Nadia Carstens, Rolanda S Julius, Aimé Lumaka, Madhuri Hegde, Joanne Ngeow and 4 more

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In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 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

5 · Who and what money

Authors and funding

14 authors.

Deborah I RitterBaylor College of Medicine, Houston, TX. Electronic address: dritter@bcm.edu.
Mark MandellStanford University, Stanford, CA.
Christine PrestonStanford University, Stanford, CA.
Marina DiStefanoMedical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Sahia M BryantBaylor College of Medicine, Houston, TX.
Nadia CarstensSouth African Medical Research Council Genetics Platform, Cape Town, South Africa.
Rolanda S JuliusH3Africa Administrative Coordinating Centre, Dept. of Integrative Biomedical Sciences, University of Cape Town, Cape Town, South Africa.
Aimé LumakaUniversity of Kinshasa, Centre for Human Genetics, Kinshasa, Democratic Republic of the Congo.
Madhuri HegdeRevvity Inc, Waltham, MA.
Joanne NgeowLee Kong Chian School of Medicine, Nanyang Technological University Singapore and Cancer Genetics Service, National Cancer Centre Singapore, Singapore.
Joannella MoralesNational Human Genome Research Institute, Bethesda, MD.
Matt W WrightStanford University, Stanford, CA.
Heidi L RehmMedical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.
Sharon E PlonBaylor College of Medicine, Houston, TX.

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
H3Africa Administrative Coordinating Centre: Enabling and Supporting Genomics and Health Research Capacity Building in AfricaU24HG009780 · NHGRI · UNIVERSITY OF CAPE TOWN · PI SKELTON, MICHELLE · 2017 to 2022
$4.8M
NHGRI NIH HHS U24 HG006834NHGRI NIH HHS U24 HG009649NHGRI NIH HHS U24 HG009780
6 · The paper itself

Abstract

purposeThe 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).

methodsWe developed pre- and postworkshop 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.

resultsThe workshops yielded >200 participants, with local scientists as essential participants. Although ∼55% of participants were unfamiliar with variant classification, we found that ∼79% were likely to use the VCI after the workshop. Furthermore, we identified that ∼10% of workshop participants created permanent accounts. We estimate costs at ∼$3 per VCI instance.

conclusionOur 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.

Indexed as

Data CurationGenetic VariationGenome, HumanGenomicsDatabases, GeneticHumansSurveys and QuestionnairesClinGenEducationTrainingVariant curationWorkshop

Identifiers

PMID42070089
PMCPMC13349456

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.