The Gene Curation Workgroup aims to develop evidence-based methods for evaluating gene-disease associations to support gene curation activities across the ClinGen project.
- Establish a framework for assessing the evidence necessary to determine if a gene causes a particular disease (clinical validity).
- Develop standards for gene curation, and define the types and amounts of evidence necessary to support an association between a gene and a particular disease.
- Provide guidance and specifications to the ClinGen application development team for the creation of an interface to support gene curation activities.
- Oversee ClinGen gene curation activities, and support the needs of the Clinical Domain Working Groups as they curate domain-specific gene-disease pairs.