Training Materials
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Sequence Variant Literature Search Tips and TricksTraining Materials - April 26, 2019
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Variant Curation Standard Operating Procedure, Version 1Training Materials - April 26, 2019
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Variant Curation Interface Help DocumentTraining Materials - April 12, 2019
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Interpreting GenomesTraining Materials - April 11, 2019
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Using the ClinGen Allele RegistryTraining Materials - April 11, 2019
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Gene-Disease Validity Classifications TutorialTraining Materials - April 9, 2019
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Gene-Disease Validity Scoring Overview TutorialTraining Materials - April 9, 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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Segregation AnalysisTraining Materials - March 21, 2019 - An overview of segregation analysis using Version 5 of the Standard Operating Procedure.
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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 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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Basic Autosomal Dominant Example: KLHL24 and Generalized Epidermolysis Bullosa SimplexTraining Materials - - An example of a basic AD curation with predominantly de novo variants.
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Basic Autosomal Dominant Example: LRP6 and Non-Syndromic OligodontiaTraining Materials - - An example of a basic AD curation with variants segregating with disease in families.
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Basic Autosomal Recessive Example: REEP6 and Retinitis PigmentosaTraining Materials - - An example of basic AR curation with variants segregating with disease in families.
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Basic X-linked Example: BGN and Spondyloepimetaphyseal DysplasiaTraining Materials - - An example of basic X-linked curation with variants segregating with disease in families.
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114 All Documents
 | 6Announcements |
 | 2ClinGen Exhibit Booth Materials |
 | Curation Activity Procedures |
 | 24Conflict Of Interest (COI) |
 | 19Data Sharing Resources |
 | 4Expert Panel Applications |
 | 1News |
 | 2MOC/CME Forms |
 | 1Patient Data Sharing |
 | 8Policies/Position Statements |
 | 2Presentations |
 | 55Publication |
 | 19Supporting Documents |
 | 26Training Materials |