Key areas of focus
- High throughput DNA sequence analysis
- Bespoke Genomics to analyse novel mechanisms of disease
- Rare variant interpretation
The last 10 years has seen an extraordinary revolution in our ability to sequence the human genome in large numbers of people. The main focus of the Genomics theme is to integrate our knowledge of the human genome into providing better, faster and more personal care for those with a genetic diseases. The theme builds on the established success of Cambridge leading large scale studies of individuals with obesity and endocrine disorders, intellectual disability and developmental disorders and breast cancer by whole exome and whole genome analysis.
The theme are developing additional resources of deep sequencing of DNA, RNA and protein “omics” in order to improve health and understanding of complex diseases.
Three subthemes reflect the importance of individual variation in the Human Genome to Precision Medicine:
1) Large scale high throughput genomics and “omics” to deliver integration of patient nucleic acid (DNA and RNA) and protein “omics” data with electronic health records to ensure rapid translation of discoveries into clinical practice with ‘Population and Quantitative Sciences’.
2) Bespoke Genomics to develop platforms for investigation of mechanisms of genetic disease not yet ready for high throughput pipelines (e.g. mosaicism, RNA-seq, epigenomics, rapid diagnostics), that will be scaled once established. This will ensure the NIHR Cambridge BRC leads a versatile and adaptive strategy to rapidly translate research to meet emerging clinical need.
3) Functional variant analysis to support data interpretation at individual gene and variant level by harnessing expertise, especially in collaboration with the NIHR BioResource for Translational Research in Common and Rare Diseases, research institutes on the Cambridge Biomedical Campus and with local partners including Wellcome Trust Sanger Institute and European Molecular Biology Laboratory – European Bioinformatics Institute.