Gene-Disease Clinical Validity Curation
The ClinGen Gene-Disease Clinical Validity curation process involves evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.
The ClinGen Gene Curation working group has developed a framework to standardize the approach to determine the clinical validity for a gene-disease pair. This framework:
- Defines the criteria needed to assess clinical validity
- Describes the evidence supporting a gene-disease association in a semi-quantitative manner, and
- Allows curators to use this information to methodically classify the validity of a given gene-disease pair.