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.

The Process

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Educational and Training Materials

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Gene Curation Interface

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Gene-Disease Clinical Validity Results

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