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Classroom Contents
A Systematic Framework for the Interpretation of Copy Number Variants - Webinar - Ambry Genetics
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- 1 Intro
- 2 Disclaimer
- 3 Variant Interpretation
- 4 Guidelines
- 5 Deletions
- 6 Duplications
- 7 The Current Scene
- 8 Proposed Changes
- 9 Classification System
- 10 Uncouple Classification from Clinical Significance
- 11 Clinical Significance
- 12 Why is this important
- 13 Quantitative Points Based Evaluation Framework
- 14 Evidence Categories
- 15 Special Considerations
- 16 Consistency
- 17 Other Supporting Information
- 18 Gene Number
- 19 Data
- 20 Case Based Evidence
- 21 Segregation
- 22 NonSegregation
- 23 Case Control Studies
- 24 Family History
- 25 Calculator Tool
- 26 Scoring Mattress
- 27 Calculating Appropriate Classification
- 28 Improving Interlaboratory Concordance
- 29 Metric Based Classifications
- 30 Duplicates
- 31 Full Set
- 32 Summary
- 33 Questions
- 34 How is the metric updated
- 35 Do you see the value to the clinician
- 36 concordance rates
- 37 publication date
- 38 closing remarks
