4 Sept 2020, 4 PM
Gene constraint is a parameter to measure selective pressure on a per gene basis. Understanding how its metrics (e.g. Z-score and pLI) have been built up can be of great help in the use of constraint scores for both missense and protein-truncating variants during the laborious process of interpreting genomic variants for diagnostic purposes.
By ad hoc clinical examples using eVai (Expert Variant Interpreter) tool, Dr. Castronovo will show you how to integrate information from constraint scores in case of genes associated to both dominant and recessive diseases, and she will give you a few hints to clarify challenging cases when genes act as exceptions to the rule.