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

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Authors: Deborah Ritter, Mark Mandell, Christine Preston, Marina T. DiStefano, Staff Sgt. Christopher Bryant, Nadia Carstens, Rolanda Julius, Aimé Zola Lumaka, M Hedge, Joanne Yuen Yie Ngeow, Juan Carlos Pérez Morales, Mark Wright
+2 more Heidi L. Rehm, Sharon E. Plon
Cited by: 0
References: 6

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.

Fields of Study & Subjects

Genomics and Rare Diseases Genomics and Phylogenetic Studies BRCA gene mutations in cancer

Publication details

Journal / source
Genetics in Medicine
Publisher
Elsevier BV
Volume
28
Issue
8
Pages
102590–102590
Publication date
1 May 2026
Language
EN