Platform Academic Lead: Prof Michael Simpson
Platform Head of Service: Dr Pawan Dhami
The BRC has an established Genomics Research Platform with specific expertise in genomics technologies and genomics data analysis with cutting edge infrastructure to support single-cell transcriptomics, Illumina Next Generation Sequencing (Illumina Propel Certified since 2017) as well as library preparation for a range of applications, including whole-genome sequencing, whole-exome sequencing and long-read sequencing.
The platform offers data analysis through Partek analysis software or through the use of in-house development of bespoke analysis pipelines and provides data analysis training. Training is provided for the self-service use of nucleotide and protein analysers and PCR instruments. The platform works with investigators to develop novel protocols for new applications within these technologies, support grant applications through expert advice on experimental design, project planning, timelines and costings.
- Single-cell sequencing (scRNA-Seq) in B cells from SLE (systemic lupus erythematosus) cases and healthy controls to identify and compare X chromosome inactivation using a plate-based method to profile transcriptomes of single cells utilising full-length cDNA and deep sequencing.
- A longitudinal study of the transcriptomics of immune checkpoint induced colitis in patients at pre-toxicity and pre-drugs time points using scRNA-Seq
- Investigation and comparison of the transcriptional profile of antigen-specific CD4 T effector and regulatory cells in individuals with new onset of Type 1 Diabetes and relatives with a high risk of developing Type 1 Diabetes with healthy individuals using scRNA-Seq (The INNODIA project)
- Understanding mechanisms of remission to IL-23 inhibitor treatment in psoriasis and the identification of biomarkers of disease remission using scRNA-Seq
- Profiling of coding and non-coding transcriptomes from patients with or without epidermolysis bullosa using microRNA-Seq and RNA-Seq (The PRUMEC trial0.
- Exome sequencing to evaluate premature ovarian insufficiency (POI) pathogenesis to identify causative genes, gain insight into the pathogenic mechanisms contributing to POI and elucidate biomarkers for disease prediction with an aim to improve management and treatment of women and their families with early onset POI