Functional effects

The UK has a huge strength in structural bioinformatics. This area of bioinformatics uses DNA sequence data to predict and analyse the 3D structure of the molecules that make up our bodies, like proteins. UK researchers have pioneered developments for predicting protein structures, functional annotations and the impacts of genetic changes. These are complex and intensive tasks spanning fundamental areas of biophysics and computer science. Currently no resource connects data on protein structure and function to genome variation and clinical practice.

The researchers will use existing extensive knowledge about proteins in combination with the highest quality protein predictions from known diseases. This has the potential for huge advances. These data must be integrated with robust tools suitable for high-throughput use and that scale to millions of genomes. Even incremental improvements for access and dissemination of existing tools will have a profound and transformative impact. The work will help to identify drug targets, aid drug design, and inform therapeutic strategies. They will promote and disseminate these resources and results for use by the research and clinical community to more accurately predict the impact of individual genomic variants and the relationship to disease progression.