I am a DPhil student under the supervision of Prof Jim Hughes (MRC Molecular Haematology Unit, MRC WIMM) and Gerton Lunter (Wellcome Trust Center for Human Genetics). My research focuses on integrating genomics data and using computational approaches such as machine learning for understanding gene regulation in its three dimensional context.
Although general principles of gene regulation are well described, the role of the spatial context and the precise mechanisms and consequences of sequence variations in the regulatory genome are poorly understood. This is problematic, because the vast majority of disease associated single nucleotide polymorphisms identified through genome-wide association studies are actually located in regulatory rather then coding regions. Furthermore, assessing regulatory variations has long been neglected in research and treatment of various diseases, including cancer, owing to our lack of ability to identify them and to interpret their functional consequences.
I am particularly interested in deep learning techniques and their application for dissecting the regulatory context of enhancers and insulator elements and deciphering their precise regulatory code through which they act. Based on that I am hoping to develop more sophisticated models for predicting the impact of regulatory sequence variations. These would help to promote the consideration of regulatory variations in translational research and patient care and streamline methods for assessing and targeting them.
Sasquatch: predicting the impact of regulatory SNPs on transcription factor binding from cell- and tissue-specific DNase footprints.
Schwessinger R. et al, (2017), Genome Res, 27, 1730 - 1742