Using Structural Biology to Support Variant Assessment - Webinar - Ambry Genetics

Using Structural Biology to Support Variant Assessment - Webinar - Ambry Genetics

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Structural Biology Applications Tools in the toolbox Dynamics

18 of 19

18 of 19

Structural Biology Applications Tools in the toolbox Dynamics

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Using Structural Biology to Support Variant Assessment - Webinar - Ambry Genetics

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

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