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

  • Hypothes.is Gene Annotation SOP v1
    Supporting Documents - August 5, 2019 - Hypothes.is is a web-based annotation tool. An SOP has been developed using standardized terms for evidence capture to augment the ClinGen Gene Clinical Validity Curation Process. This tool has been shown to reduce curation time and facilitate data transfer into the Gene Curation Interface.
  • 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.
  • Gene-Disease Validity Standard Operating Procedures, Version 6
    Curation Activity Procedures - August 29, 2018 Archived Document
  • 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