Wellcome Trust Centre for Stem Cell Research, Cambridge | United Kingdom
The major themes of my current research are studying the genetic causes of severe developmental disorders and causes of variation in germline mutation rates. We combine computational genetic analyses of exome and genome sequencing data with molecular characterisation of cellular and animal models of neurodevelopmental disorders.
Keywords: Developmental disorders / copy number variation / disease susceptibility / human mutation / genomics
Subject area(s): Molecular Medicine | Genomic & Computational Biology | Development