Training Materials
-
Standardized Evidence Summary TextTraining Materials - January 18, 2021
-
Transcript Overview, part 3Training Materials - January 12, 2021
-
Baseline Annotation OverviewTraining Materials - January 12, 2021
-
Basic X-linked Example: BGN and Spondyloepimetaphyseal DysplasiaTraining Materials - October 29, 2020 - An example of basic X-linked curation with variants segregating with disease in families.
-
Segregation AnalysisTraining Materials - October 29, 2020 - An overview of segregation analysis using the most current version of the Gene-Disease Clinical Validity Standard Operating Procedure.
-
Basic Autosomal Recessive Example: REEP6 and Retinitis PigmentosaTraining Materials - October 29, 2020 - An example of basic AR curation with variants segregating with disease in families.
-
Basic Autosomal Dominant Example: LRP6 and Non-Syndromic OligodontiaTraining Materials - October 29, 2020 - An example of a basic AD curation with variants segregating with disease in families.
-
Basic Autosomal Dominant Example: KLHL24 and Generalized Epidermolysis Bullosa SimplexTraining Materials - October 29, 2020 - An example of a basic AD curation with predominantly de novo variants.
-
Gene-Disease Validity Scoring Overview TutorialTraining Materials - October 28, 2020
-
Gene-Disease Validity Classifications TutorialTraining Materials - October 28, 2020
-
CIViC - Adding Source SuggestionsTraining Materials - May 19, 2020
-
ClinGen Adult Actionability Working Group SlidesTraining Materials - April 22, 2020
-
ClinGen Variant Curation Training, Level 2 (VCEP-specific)Training Materials - June 19, 2019 - Level 2 variant curation training aims to educate the biocurator on the specific ACMG/AMP guideline specifications and variant assessment procedures outlined by their assigned variant curation expert panel (VCEP).
-
Variant Curation Standard Operating Procedure, Version 1Training Materials - April 26, 2019
-
Sequence Variant Literature Search Tips and TricksTraining Materials - April 26, 2019
-
Variant Curation Interface Help DocumentTraining Materials - April 12, 2019
-
Using the ClinGen Allele RegistryTraining Materials - April 11, 2019
-
Interpreting Genomes: Variant Curation VideoTraining Materials - April 11, 2019
-
Gene Disease Validity General Training PresentationTraining Materials - March 29, 2019 - Updated February 2018. Focuses on how to use the curation spreadsheet, but also provides general instruction on gene disease validity process.
-
Overview of the Clinical Actionability evaluation processTraining Materials - February 21, 2019 - Overview of the clinical actionability evaluation process, prepared February 2017
-
ClinGen Variant Curation Training, Level 1Training Materials - January 17, 2019 - Level 1 variant curation training aims to familiarize variant biocurators with general variant assessment information and ClinGen procedures/resources.
-
CIViC - Editing EntitiesTraining Materials - April 17, 2018
-
Adding Evidence to CIViCTraining Materials - April 17, 2018
-
CIViC - Getting StartedTraining Materials - April 17, 2018
-
ClinGen Pediatric Actionability Working Group TrainingTraining Materials - March 28, 2018
-
Scoring experimental evidence for gene curation [Presentation]Training Materials - January 11, 2018
-
Use of case-control studies for curation [Presentation]Training Materials - October 26, 2017
-
Gene Disease Validity Scoring case-level variant evidence for gene curation 2 [Presentation]Training Materials - April 27, 2017
-
Gene Disease Validity Scoring case-level variant evidence for gene curation 1 [Presentation]Training Materials - March 9, 2017
-
Systematic Assessment Of Clinical Actionability Associated With Genomic VariationTraining Materials - February 23, 2017
-
188 All Documents
 | 4ClinGen Exhibit Booth Materials |
 | Curation Activity Procedures |
 | 36Conflict Of Interest (COI) |
 | 19Data Sharing Resources |
 | 9Expert Panel Applications |
 | 21News |
 | 3MOC/CME Forms |
 | 24Patient Data Sharing |
 | 10Policies/Position Statements |
 | 2Presentations |
 | 82Publication |
 | 24Supporting Documents |
 | 36Training Materials |