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Available Lines of Evidence What can we use to assess variants?
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Classroom Contents
Using Structural Biology to Support Variant Assessment - Webinar - Ambry Genetics
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- 1 Intro
- 2 ACMG Guidelines General variant classification guideline
- 3 Structural Data Number of structures available
- 4 Available Lines of Evidence What can we use to assess variants?
- 5 Protein Structure Defines the Function What is the central dogma of molecular biology?
- 6 Information Levels DNA, RNA, and protein
- 7 Amino Acids The basic building blocks
- 8 Sequence Alignments & Conservation Additional data for variant assessment
- 9 Protein Structure Four levels of protein structure
- 10 Structural Biology & 3D Protein Structure Accounting for folding
- 11 Biophysical Method Overview Using classical mechanics to represent proteins
- 12 Molecular Interactions Functional disruption through lost interactions
- 13 Structural Biology in Variant Assessment Possible outcomes
- 14 Predicted Stability Changes Comparing energies
- 15 Structural Motif Disruption Structural details of motif assessment
- 16 Biomolecular Interactions Arginine finger interacts with the DNA
- 17 BRCA2 p.D2723N Destabilizing structure
- 18 Structural Biology Applications Tools in the toolbox Dynamics
- 19 Acknowledgements Thank you for your contributions, insight, and help
