Gene-Disease 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 monogenic disease.
The ClinGen Gene Curation working group has developed a framework to standardize the approach to determine the validity for a gene-disease pair. This framework:
- Defines the criteria needed to assess gene-disease validity
- Describes the evidence supporting a gene-disease relationship 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.
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Current Standard Operating Procedure
Detailed documentation outlining the gene disease validity process.
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Documents & Announcements
Documents and announcements related to Gene-Disease Clinical Validity Curation.
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Gene Curation Interface
Currently available for ClinGen biocurators and expert panels. Click here to view a demo version.
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Gene-Disease Validity Results
Current gene-disease pairs that have been evaluated by ClinGen for clinical validity.
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Interested in sharing data with ClinGen?
Further information and policy for data contributors
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Claim Educational Credit for ClinGen Gene-Disease Validity Curations
This module offered through the ACMG Genetics Academy is intended to provide learners with educational credit for participating in ClinGen gene curation activities.
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