Email: [email protected]
Charlie is a research bioinformatician within the Translational Genetics team. He completed his PhD at the University of Manchester in 2022, developing approaches for the prioritisation and investigation of splice-impacting variants in Mendelian disease.
His current research focuses on developing methodologies to support the integration of functional data, particularly multiplex assays of variant effect (MAVEs), in the interpretation of germline variants in cancer susceptibility genes (CSGs). He also administers the CanVar-UK web platform for CSG variant interpretation.