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

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Summary
This summary is machine-generated.

International workshops successfully engaged genetics groups in variant classification training, boosting tool adoption. Local scientist involvement is key for sustained use of genomic curation resources.

Keywords:
ClinGeneducationtrainingvariant curationworkshop

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Area of Science:

  • Genomic Medicine
  • Clinical Genetics
  • Bioinformatics

Background:

  • The Clinical Genome Resource (ClinGen) aims to centralize clinically relevant genetic knowledge for genomic medicine.
  • Effective dissemination and community uptake of ClinGen tools are crucial for their impact.

Purpose of the Study:

  • To assess the impact and sustained use of ClinGen variant classification tools.
  • To evaluate international engagement strategies, specifically through workshops in India, Africa, and Singapore.
  • To analyze the organizational aspects and costs associated with dedicated ClinGen Variant Curation Interface (VCI) instances.

Main Methods:

  • Development and analysis of pre and post workshop questionnaires.
  • Tracking of ClinGen tool usage following the workshops.
  • Evaluation of organizational factors and costs for creating dedicated VCI instances for each workshop.

Main Results:

  • Over 200 participants attended, with significant engagement from local scientists.
  • Approximately 79% of participants expressed likelihood to use the VCI post-workshop, despite ~55% initial unfamiliarity with variant classification.
  • ~10% of participants created permanent accounts, indicating sustained interest.
  • The estimated cost per dedicated VCI instance was approximately $3.

Conclusions:

  • International workshops are effective in promoting sustained use of ClinGen's variant curation tools.
  • Engaging local scientists is vital for successful workshop deployment and adoption.
  • Future considerations include tailoring user groups by experience level to further enhance engagement.