Using Structural Biology to Support Variant Assessment - Webinar - Ambry Genetics
Explore the application of structural biology in genetic variant assessment through this informative webinar presented by Ambry Genetics. Gain insights into leveraging biophysical principles to evaluate the functional impact of genetic variants, complementing traditional assessment methods. Learn about general biophysical approaches and their practical applications in determining variant deleteriousness. Discover how structural evidence can be combined with other categories of evidence to reassess variants of unknown significance. Delve into topics such as ACMG guidelines, protein structure and function, amino acids, sequence alignments, conservation, and molecular interactions. Understand the four levels of protein structure and how they relate to variant assessment. Examine case studies, including the analysis of BRCA2 p.D2723N, to see structural biology principles in action. Benefit from the expertise of Dr. Adam Chamberlin, Principal Structural Biologist at Ambry Genetics, as he shares his extensive knowledge in quantum and physical chemistry, structural biology, and mathematical modeling. Read more