ClinGen Gene Disease Clinical Validity curation summaries

ClinGen Gene Disease Clinical Validity curation summaries

The Gene Curation Coalition (GenCC): Database UpdatesПодробнее

The Gene Curation Coalition (GenCC): Database Updates

Written summaries of ClinGen Gene-Disease clinical validity curationsПодробнее

Written summaries of ClinGen Gene-Disease clinical validity curations

Gene Disease Validity Classifications TutorialПодробнее

Gene Disease Validity Classifications Tutorial

Updates to the ClinGen Gene Curation SOP (version 8)Подробнее

Updates to the ClinGen Gene Curation SOP (version 8)

Scoring experimental evidence for the ClinGen Gene Disease Clinical Validity FrameworkПодробнее

Scoring experimental evidence for the ClinGen Gene Disease Clinical Validity Framework

ClinGen Gene Curation Interface Updates to Comply with Gene Disease Clinical Validity SOP Version 8Подробнее

ClinGen Gene Curation Interface Updates to Comply with Gene Disease Clinical Validity SOP Version 8

Updates to the ClinGen Clinical Validity SOP (v9)Подробнее

Updates to the ClinGen Clinical Validity SOP (v9)

Gene Disease Validity Scoring Overview TutorialПодробнее

Gene Disease Validity Scoring Overview Tutorial

Panel 2: Consistency of Interpretation of Variants Across Expert Labs/Groups, ClinVar SubmissionsПодробнее

Panel 2: Consistency of Interpretation of Variants Across Expert Labs/Groups, ClinVar Submissions

ClinGen Hearing Loss Gene Curation Expert PanelПодробнее

ClinGen Hearing Loss Gene Curation Expert Panel

ClinGen Gene Curation SOP updates (Version 7)Подробнее

ClinGen Gene Curation SOP updates (Version 7)

Using the ClinGen Clinical Validity framework for genes involved in Inborn Errors of MetabolismПодробнее

Using the ClinGen Clinical Validity framework for genes involved in Inborn Errors of Metabolism

Dosage sensitivity resourcesПодробнее

Dosage sensitivity resources

Assessment of case control studies for the ClinGen Gene Disease Clinical Validity FrameworkПодробнее

Assessment of case control studies for the ClinGen Gene Disease Clinical Validity Framework

Considerations when publishing clinical validity data on the ClinGen websiteПодробнее

Considerations when publishing clinical validity data on the ClinGen website