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.
Educational and Training Materials

Powerpoint slides, videos, handouts, etc. for those interested in curating gene-disease pairs using the ClinGen method.

Learn More
Current Standard Operating Procedure

Detailed documentation outlining the gene disease validity process.

Learn More
Documents & Announcements

Documents and announcements related to Gene-Disease Clinical Validity Curation.

Learn More
Gene Curation Interface

Currently available for ClinGen biocurators and expert panels. Click here to view a demo version.

Learn More
Gene-Disease Clinical Validity Results

Current gene-disease pairs that have been evaluated by ClinGen for clinical validity.

Learn More