Biobanks from a Pathologist's Viewpoint - CGSI 2023
Explore a comprehensive lecture on biobanks from a pathologist's perspective, delivered by Valerie Arboleda at the Computational Genomics Summer Institute (CGSI) 2023. Delve into the role of pathologists, the ease of sequencing, and the complexities of Mendelian disorders. Examine the factors influencing variable expressivity and phenotype expansion in monogenic disorders. Investigate the challenges of classifying missense variants of uncertain significance (VUS) and learn how ESM1b scores predict the expressivity of monogenic missense variants. Discover the impact of polygenic risk scores (PRS) on carrier phenotypes and understand how common variants affect monogenic variant carriers, using BMI as an example. Gain valuable insights into the intersection of pathology, genomics, and biobanking in this informative 39-minute presentation.