Oncology
Session # Ambry Breakfast Presentation
Structural biology is a fundamental pillar of an innovative and thoughtful variant interpretation model like Classifi®. It can offer a powerful lens through which to assess genetic variants by providing insights into their impact on clinically relevant protein structure and function. With the use of novel, user-friendly tools such as AlphaMissense and AlphaFold becoming more mainstream, we offer an accessible expert view of best practices and pitfalls born of decades of expert experience using structural biology for variant interpretation. This talk will focus on the integration of structural data from these tools with high-throughput functional data from HBOC genes that have recently become available in the scientific literature highlighting protein structure basics, gene-specific differences, and caveats to this approach including additive evidence of bioinformatics-alone and evidence circularities. We aim to provide practical guidance for researchers navigating variant interpretation using structural biology.