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ClinGen Resource

Gene Disease Clinical Validity

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26 items
Last updated on Oct 7, 2021
public playlist
ClinGen Resource
ClinGen Gene Curation SOP updates (Version 7)
35:21
ClinGen Gene Curation SOP updates (Version 7)

ClinGen Resource
Assessment of case control studies for the ClinGen Gene Disease Clinical Validity Framework
52:59
Assessment of case control studies for the ClinGen Gene Disease Clinical Validity Framework

ClinGen Resource
Scoring experimental evidence for the ClinGen Gene Disease Clinical Validity Framework
54:27
Scoring experimental evidence for the ClinGen Gene Disease Clinical Validity Framework

ClinGen Resource
ClinGen Gene Disease Clinical Validity framework: Case level evidence scoring, Part 1
1:01:02
ClinGen Gene Disease Clinical Validity framework: Case level evidence scoring, Part 1

ClinGen Resource
ClinGen Gene Disease Clinical Validity framework: Case level evidence scoring, Part 2
44:14
ClinGen Gene Disease Clinical Validity framework: Case level evidence scoring, Part 2

ClinGen Resource
ClinGen Gene Tracking System
20:41
ClinGen Gene Tracking System

ClinGen Resource
Monarch Disease Ontology (MonDO)
59:45
Monarch Disease Ontology (MonDO)

ClinGen Resource
ClinGen Hearing Loss Gene Curation Expert Panel
53:54
ClinGen Hearing Loss Gene Curation Expert Panel

ClinGen Resource
The Mouse Genome Informatics (MGI) database
55:21
The Mouse Genome Informatics (MGI) database

ClinGen Resource
Use of the Hypothes.is online annotation tool for gene curation
45:18
Use of the Hypothes.is online annotation tool for gene curation

ClinGen Resource
ClinGen RASopathy Working Group gene curation review
56:45
ClinGen RASopathy Working Group gene curation review

ClinGen Resource
ClinGen Gene Disease Clinical Validity curation summaries
9:59
ClinGen Gene Disease Clinical Validity curation summaries

ClinGen Resource
Considerations when publishing clinical validity data on the ClinGen website
21:13
Considerations when publishing clinical validity data on the ClinGen website

ClinGen Resource
Capturing segregation data in the ClinGen Gene Curation Interface
13:26
Capturing segregation data in the ClinGen Gene Curation Interface

ClinGen Resource
Tips for using the ClinGen Gene Curation Interface
20:43
Tips for using the ClinGen Gene Curation Interface

ClinGen Resource
ClinGen Intellectual Disability-Autism and Epilepsy GCEPs
44:31
ClinGen Intellectual Disability-Autism and Epilepsy GCEPs

ClinGen Resource
Capturing semi-dominant inheritance in the ClinGen Gene Curation Interface
11:50
Capturing semi-dominant inheritance in the ClinGen Gene Curation Interface

ClinGen Resource
ClinGen PTEN Variant Curation Expert Panel
34:49
ClinGen PTEN Variant Curation Expert Panel

ClinGen Resource
Constraint scores
44:56
Constraint scores

ClinGen Resource
The International Mouse Phenotyping Consortium and Knock Out Mouse Project
44:31
The International Mouse Phenotyping Consortium and Knock Out Mouse Project

ClinGen Resource
ClinGen Gene Curation Interface (GCI) Updates: Releases 31 and 32
9:27
ClinGen Gene Curation Interface (GCI) Updates: Releases 31 and 32

ClinGen Resource
Mondo in ClinGen Curation Workflows
58:39
Mondo in ClinGen Curation Workflows

ClinGen Resource
Gene Disease Validity Classifications Tutorial
10:04
Gene Disease Validity Classifications Tutorial

ClinGen Resource
Updates to the ClinGen Gene Curation SOP (version 8)
20:33
Updates to the ClinGen Gene Curation SOP (version 8)

ClinGen Resource
Written summaries of ClinGen Gene-Disease clinical validity curations
23:52
Written summaries of ClinGen Gene-Disease clinical validity curations

ClinGen Resource
The Gene Curation Coalition (GenCC)
1:04:08
The Gene Curation Coalition (GenCC)