The Clinical Genome Resource (ClinGen https://www.clinicalgenome.org/tools/clingen-gene-disease-validity-curation-module) is an NIH-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research. In 2017, ClinGen published Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource (Strande et al. 2017, PMCID: PMC5473734). The framework involves evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease. This framework 1) defines the criteria needed to assess clinical validity, 2) describes the evidence supporting a gene-disease association in a semi-quantitative manner, and 3) allows biocurators to use this information to methodically classify the validity of a given gene-disease pair. ClinGen forms Gene Curation Expert Panels (GCEPs) to implement the approved process of gene-disease validity evaluation. Each GCEP is focused on a particular disease area (for example, hereditary cancer, intellectual disability/autism, hearing loss, etc.) and includes members with clinical care, research, and diagnostic laboratory expertise within that domain, as well as biocurators with experience in the gene-disease validity process. In most cases, a biocurator completes the initial gene-disease curation and arrives at a provisional classification, followed by presentation of the data to the GCEP for expert review and final approval. GCEPs utilize the ClinGen Gene Curation Interface (GCI) for documentation of gene-disease validity classifications, and all curations completed by the group are made publicly available through the ClinGen website (https://www.clinicalgenome.org/tools/clingen-gene-disease-validity-curation-module).
- Provider:American College of Medical Genetics and Genomics
- Activity Link: https://www.acmgeducation.net
- Start Date: 2025-01-06 06:00:00
- End Date: 2025-01-06 06:00:00
- Credit Details: AMA PRA Category 1 Credit™️: 10.0 hours
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- Activity Type: Enduring Material
- CME Finder Type: Online Learning
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- Measured Outcome: Learner Competence
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