The following are documents and announcements related to Gene-Disease Clinical Validity Curation.

  • Standardized Evidence Summary Text
    Supporting Documents - March 21, 2019 - The gene curation working group has provided an optional document with suggested standardized example text that can be used to write gene curation summaries.
  • Gene-Disease Validity Recuration Process
    Supporting Documents - March 20, 2019 - ClinGen's recommendations for re-evaluating previously approved gene-disease validity classifications.
  • Genetic Evidence Scoring Metric
    Supporting Documents - March 19, 2019 - Scoring metric to guide curators in assessing genetic evidence.
  • Experimental Evidence Scoring Metric
    Supporting Documents - March 19, 2019 - Scoring metric to guide curators in assessing experimental evidence.
  • Summary Scoring Metric
    Supporting Documents - March 19, 2019 - Once genetic and experimental evidence has been assessed, this summary scoring metric can be used to arrive a clinical validity classification.
  • Supplemental Methods for Validation
    Supporting Documents - March 19, 2019 - Brief description of how the gene-disease pairs in the original publication were validated.
  • Methods for Validation of Curation Framework
    Supporting Documents - March 5, 2019
  • Gene Disease Validity SOP Version 5 Appendix B
    Supporting Documents - February 22, 2019 - Appendix B to SOP version 5 was originally released as a separate document. This information was included in the main SOP document, Version 6.
  • ClinGen Gene-Disease Scoring Overview [Video]
    Training Materials - January 25, 2018
  • Gene-Disease Validity Standard Operating Procedures, Version 5 (Archived)
    Curation Activity Procedures - November 1, 2017 - Version 5 of the SOP, released November 2017. Archived Document
  • Gene-Disease Validity Standard Operating Procedures, Version 4 (Archived)
    Curation Activity Procedures - May 1, 2017 - Version 4 of the SOP, released May 2017. Archived Document