Training Materials
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Standardized Evidence Summary TextTraining Materials - January 18, 2021
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Transcript Overview, part 3Training Materials - January 12, 2021
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Baseline Annotation OverviewTraining Materials - January 12, 2021
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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.
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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.
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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.
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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.
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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.
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Gene-Disease Validity Scoring Overview TutorialTraining Materials - October 28, 2020
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Gene-Disease Validity Classifications TutorialTraining Materials - October 28, 2020
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CIViC - Adding Source SuggestionsTraining Materials - May 19, 2020
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ClinGen Adult Actionability Working Group SlidesTraining Materials - April 22, 2020
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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).
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Variant Curation Standard Operating Procedure, Version 1Training Materials - April 26, 2019
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Sequence Variant Literature Search Tips and TricksTraining Materials - April 26, 2019
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Variant Curation Interface Help DocumentTraining Materials - April 12, 2019
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Using the ClinGen Allele RegistryTraining Materials - April 11, 2019
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Interpreting Genomes: Variant Curation VideoTraining Materials - April 11, 2019
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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.
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Overview of the Clinical Actionability evaluation processTraining Materials - February 21, 2019 - Overview of the clinical actionability evaluation process, prepared February 2017
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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.
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CIViC - Editing EntitiesTraining Materials - April 17, 2018
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Adding Evidence to CIViCTraining Materials - April 17, 2018
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CIViC - Getting StartedTraining Materials - April 17, 2018
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ClinGen Pediatric Actionability Working Group TrainingTraining Materials - March 28, 2018
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Scoring experimental evidence for gene curation [Presentation]Training Materials - January 11, 2018
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Use of case-control studies for curation [Presentation]Training Materials - October 26, 2017
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Gene Disease Validity Scoring case-level variant evidence for gene curation 2 [Presentation]Training Materials - April 27, 2017
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Gene Disease Validity Scoring case-level variant evidence for gene curation 1 [Presentation]Training Materials - March 9, 2017
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Systematic Assessment Of Clinical Actionability Associated With Genomic VariationTraining Materials - February 23, 2017
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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 |