Interested in Gene Curation? The following documents and presentations are available to help people learn and understand the Gene-Disease Validity curation process. In order to get involved with our Gene Curation activities, please fill out our volunteer survey: http://bit.ly/clingenvolunteersurvey. For questions about existing materials or requests for new materials, contact us at clingen@clinicalgenome.org.

Training Modules


1
Required

The Publication

Read the publication describing the ClinGen gene-disease validity evaluation process.

2
Required

Standard Operating Procedures

Detailed documentation outlining the gene-disease validity process.

4
Required

Video Tutorials

Video tutorials that describe the scoring & classifications for gene-disease validity, as well as the procedure for lumping & splitting.

5
Required

Live GCI Training

Attend a live Gene Curation Interface (GCI) training to learn more about how to enter information for curations. The ClinGen Community Curation Group will contact you regarding this training, once you have filled out the volunteer survey: http://bit.ly/clingenvolunteersurvey.

6
Required

Attestation & Group Assignment

Once you have read through all of the information and attended a live GCI training session, you will be sent an attestation form to fill out. Once your attestation form is complete, the ClinGen Community Curation Group will contact you with your group assignment.

7
Optional

OPTIONAL Item

This OPTIONAL item is the Gene Curation Interface Help Document.

Supporting Materials


ViewHypothes.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.

ViewStandardized 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.

ViewGene-Disease Validity Recuration Process

Supporting Documents - March 20, 2019 - ClinGen's recommendations for re-evaluating previously approved gene-disease validity classifications.

ViewGenetic Evidence Scoring Metric

Supporting Documents - March 19, 2019 - Scoring metric to guide curators in assessing genetic evidence.

ViewExperimental Evidence Scoring Metric

Supporting Documents - March 19, 2019 - Scoring metric to guide curators in assessing experimental evidence.

ViewSummary 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.

ViewSupplemental Methods for Validation

Supporting Documents - March 19, 2019 - Brief description of how the gene-disease pairs in the original publication were validated.

ViewMethods for Validation of Curation Framework

Supporting Documents - March 5, 2019

ViewGene 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.

ViewGene-Disease Validity Standard Operating Procedures, Version 6

Curation Activity Procedures - August 29, 2018 Archived Document

ViewClinGen Gene-Disease Scoring Overview [Video]

Training Materials - January 25, 2018

ViewGene-Disease Validity Standard Operating Procedures, Version 5 (Archived)

Curation Activity Procedures - November 1, 2017 - Version 5 of the SOP, released November 2017. Archived Document

ViewGene-Disease Validity Standard Operating Procedures, Version 4 (Archived)

Curation Activity Procedures - May 1, 2017 - Version 4 of the SOP, released May 2017. Archived Document

All Gene-Disease Clinical Validity Training Materials