- 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.
Gene-Disease Validity Standard Operating Procedures, Version 7Curation Activity Procedures - August 12, 2019 - These materials correspond to updates to the ClinGen Gene-Disease Validity Standard Operating Procedure, version 7, released on August 12, 2019. A summary of the updates for version 7, as well as a highlighted and annotated pdf version are provided.
Clinical Validity ClassificationsSupporting Documents - March 19, 2019 - The Clinical Validity Classifications are used to qualitatively describe the strength of evidence documenting a gene-disease association. Note: these terms do not reflect the effect size or relative risk attributable to variants in a particular gene.
Tools & Resources
Working Group Membership
Membership spans many fields, including genetics, medical, academia, and industry.