National health service (NHS) Genomic Medicine Services will soon have a standardised genomics infrastructure for rare disease, which is dependent on the quality and speed of data interpretation. This is dependent on the quality of bioinformatic support systems to achieve data analysis and efficient return of results for optimal patient care.
This project will develop AI approaches to offer digital solutions capable of integrating health- relevant molecular and genomic data into AI-based tools. This will enable rapid diagnostic uplift and prioritisation of sequencing results as well as patient stratification and prognostication. We will utilise genomic data in additional downstream AI- applications including molecular topological mapping, machine-learning classifiers, and prediction models. We will develop in silico tools to determine molecular impact on protein function, identifying drug targets and advancing mechanistic understanding of disease.
