Gene-Disease Clinical Validity Training Materials
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 review the information on our ClinGen Community Curation Working Group page and fill out our volunteer survey. Please note that Gene Curation is a comprehensive volunteer activity and on average, 8-10 hours of effort is required each month. For questions about existing materials or requests for new materials, contact us at clingen@clinicalgenome.org.
Training Modules
The Publication
Read the publication describing the ClinGen gene-disease validity evaluation process.
Precuration
Precuration is the process of gathering information to determine which disease entity is being curated and the disease entity's mode of inheritance. ClinGen uses lumping and splitting guidelines to help make decisions about which disease(s) to curate for any given gene.
Curation Scoring Overview and Standard Operating Procedures
Detailed documentation outlining the gene-disease validity process.
Standardized Evidence Summary Text
Evidence summaries are an important part of the gene-disease validity curation. These evidence summaries are made publicly available on our website, clinicalgenome.org, and can be accessed by different types of users, including those who may not be readily familiar with a given gene-disease relationship. Evidence summaries should include an overview of the evidence used to make the classification, as well as any other information necessary to understand the relationship between the gene and the disease. Please see the linked document for example text.
Interactive Training Modules
Interactive Powerpoint training modules walk users through basic gene-disease validity curation concepts.
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 either emailed volunteer@clinicalgenome.org or filled out the volunteer survey below. (Please use this option if you would like to volunteer to curate with ClinGen).
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.
Gene Curation Interface Help Document
This document provides information about how to use the Gene Curation Interface (GCI).
Gene Curation FAQ Document
This document provides examples and explanations to frequently asked questions (FAQ) about the gene curation process. It may be a helpful supplement to the Standard Operating Procedure (SOP), especially for new biocurators.
Video Tutorials
Videos describing how to use the ClinGen Allele Registry, as well as an overview of searching the literature for sequence variant evidence, including tips and tricks on effective use of variant nomenclature in your search, where to look and common literature search speed bumps, and how to overcome them.