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ClinGen Resource
Biocurator Working Group
561 views
106 items
Last updated on May 23, 2024
public playlist
ClinGen Resource
54:08
Overview of the Somatic Cancer CDWG VCEPs and taskforces
ClinGen Resource
41:20
NCBI Datasets
ClinGen Resource
59:08
All of Us Research Project
ClinGen Resource
52:07
UCSC Genome Browser: Tracks, tips and tricks
ClinGen Resource
57:07
gnomAD v4. Q&A
ClinGen Resource
1:00:22
GnomAD v4. overview
ClinGen Resource
57:37
Retina GCEP Updates
ClinGen Resource
41:03
ClinGen Biocurator Working Group 2023 End of Year Wrap-up
ClinGen Resource
57:53
Gene Curation SOP Updates
ClinGen Resource
57:17
Overview of the Dosage Sensitivity Working Group
ClinGen Resource
57:37
Gene Curation Q&A
ClinGen Resource
58:01
Variant Curation Q&A
ClinGen Resource
54:20
The New Approach to Co-segregation for Variant Classification
ClinGen Resource
56:16
Recuration of Hereditary Cancer Genes | Hereditary Cancer GCEP
ClinGen Resource
43:44
ClinGen Syndromic Disorders GCEP: Overview and Updates
ClinGen Resource
42:53
ClinGen Guidance and Recommendations for Monogenic Disease Nomenclature
ClinGen Resource
35:52
Updates to the ClinGen Gene Curation Interface (GCI) and Gene Tracker | April 2023
ClinGen Resource
1:13:48
Application of the ACMG/AMP Framework to Capture Evidence Relevant to Impact on Splicing
ClinGen Resource
44:07
The Gene Curation Coalition (GenCC): Database Updates
ClinGen Resource
58:15
ClinGen Kidney Disease CDWG: Overview & Updates
ClinGen Resource
43:30
ClinGen Curation Updates (Feb 2023)
ClinGen Resource
54:34
ClinGen Hearing Loss GCEP & VCEP: Overview & Updates
ClinGen Resource
35:48
The Clinical Genome Resource: Progress to date.
ClinGen Resource
51:00
Literature searches for variant curation
ClinGen Resource
56:03
Accessing and using ClinGen data
ClinGen Resource
55:34
Variant nomenclature: Standard Practice and Common Glitches
ClinGen Resource
40:12
Updates to the ClinGen Clinical Validity SOP (v9)
ClinGen Resource
55:37
Rat Genome Database
ClinGen Resource
57:56
ClinGen SVI WG guidance for use of in silico predictors for missense variants.
ClinGen Resource
50:51
Updates to the gnomAD resource - STRs, variant co-occurrence and other tips.
ClinGen Resource
30:48
1) ClinGen Group and Personel Management system; 2) Publication of precuration data on website
ClinGen Resource
46:55
Updates to the Gene Curation Coalition Database.
ClinGen Resource
54:20
The ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel
ClinGen Resource
57:04
LitVar2
ClinGen Resource
57:22
Use of mouse models in curation
ClinGen Resource
56:33
ClinGen Sequence Variant Interpretation WG: Updates and discussion on variant classification
ClinGen Resource
58:48
Online Mendelian Inheritance in Man (ClinGen Biocurator Working Group)
ClinGen Resource
32:17
Standardized text for ClinGen Variant Curation Expert Panels
ClinGen Resource
40:05
ClinGen Gene Curation Interface Updates to Comply with Gene Disease Clinical Validity SOP Version 8
ClinGen Resource
54:50
Somatic Cancer Variant Curation in CIViC.
ClinGen Resource
42:00
ClinGen Brain Malformations Variant Curation Expert Panel
ClinGen Resource
45:43
Using ClinVar - For the ClinGen Biocurator Working Group
ClinGen Resource
35:27
ClinGen Informatics and Software
ClinGen Resource
1:04:08
The Gene Curation Coalition (GenCC)
ClinGen Resource
58:36
Mouse Genome Informatics and the Alliance of Genome Resources
ClinGen Resource
23:52
Written summaries of ClinGen Gene-Disease clinical validity curations
ClinGen Resource
28:43
Written summaries for Variant classification by ClinGen Variant Curation Expert Panels
ClinGen Resource
1:02:32
ClinGen Allele Registry (Biocurator Working Group)
ClinGen Resource
52:26
The HUGO Gene Nomenclature Committee
ClinGen Resource
20:33
Updates to the ClinGen Gene Curation SOP (version 8)
ClinGen Resource
23:49
ClinGen GCI and VCI Re-architecture
ClinGen Resource
58:39
Mondo in ClinGen Curation Workflows
ClinGen Resource
53:10
The ClinGen Actionability Working Group
ClinGen Resource
56:56
Ensembl Updates - BioMart and the Variant Effect Predictor (ClinGen Biocurator Working Group)
ClinGen Resource
1:07:29
SpliceAI (ClinGen Biocurator Working Group)
ClinGen Resource
1:25:05
ClinGen Biocurator WG: Bayesian Framework for Variant Interpretation
ClinGen Resource
57:29
Use of in silico splicing predictors (Part 2)
ClinGen Resource
5:43
ClinGen Variant Curation Interface (VCI) Updates: Releases 31 and 32
ClinGen Resource
9:27
ClinGen Gene Curation Interface (GCI) Updates: Releases 31 and 32
ClinGen Resource
4:50
Interfaces updates (R29)
ClinGen Resource
41:54
gnomAD Version 3
ClinGen Resource
25:19
Variant Curation Interface updates (R28)
ClinGen Resource
54:31
The MANE transcript project
ClinGen Resource
46:35
Recommendations on the use of functional studies for variant interpretation
ClinGen Resource
44:31
The International Mouse Phenotyping Consortium and Knock Out Mouse Project
ClinGen Resource
44:56
Constraint scores
ClinGen Resource
11:50
Capturing semi-dominant inheritance in the ClinGen Gene Curation Interface
ClinGen Resource
44:31
ClinGen Intellectual Disability-Autism and Epilepsy GCEPs
ClinGen Resource
58:24
Splicing and in silico splicing predictors
ClinGen Resource
42:01
ClinGen Allele Registry
ClinGen Resource
20:43
Tips for using the ClinGen Gene Curation Interface
ClinGen Resource
41:04
Finding literature for variant interpretation
ClinGen Resource
34:46
ClinVar Miner
ClinGen Resource
59:17
HGVS nomenclature basics and legacy variants
ClinGen Resource
50:59
Transcript annotation
ClinGen Resource
20:46
NCBI dbSNP and dbVar
ClinGen Resource
18:07
NCBI Molecular QTL resource
ClinGen Resource
13:26
Capturing segregation data in the ClinGen Gene Curation Interface
ClinGen Resource
26:10
Genome Builds and NCBI Genome Data Viewer
ClinGen Resource
29:43
RefSeq and NCBI Gene
ClinGen Resource
57:19
HGVS nomenclature (advanced)
ClinGen Resource
21:13
Considerations when publishing clinical validity data on the ClinGen website
ClinGen Resource
9:59
ClinGen Gene Disease Clinical Validity curation summaries
ClinGen Resource
47:03
ExAC and gnomAD
ClinGen Resource
56:45
ClinGen RASopathy Working Group gene curation review
ClinGen Resource
45:18
Use of the Hypothes.is online annotation tool for gene curation
ClinGen Resource
50:42
Sequence Variant Interpretation Working Group (SVI) updates
ClinGen Resource
1:04:40
UCSC Genome Browser, part 2 (for ClinGen Biocurator Working Group)
ClinGen Resource
1:03:57
UCSC Genome Browser, part 1 (for ClinGen Biocurator Working Group)
ClinGen Resource
1:03:58
Ensembl, Part 2
ClinGen Resource
48:40
ClinGen MYH7 Variant Curation Expert Panel
ClinGen Resource
1:00:02
Ensembl, Part 1
ClinGen Resource
55:21
The Mouse Genome Informatics (MGI) database
ClinGen Resource
56:29
An introduction to Hypothes.is, an online annotation tool
ClinGen Resource
26:38
In silico predictors for the impact of missense variants
ClinGen Resource
50:32
Review of the ACMG/AMP variant interpretation guidelines
ClinGen Resource
53:54
ClinGen Hearing Loss Gene Curation Expert Panel
ClinGen Resource
1:06:25
Disease ontologies
ClinGen Resource
59:45
Monarch Disease Ontology (MonDO)
ClinGen Resource
20:41
ClinGen Gene Tracking System
