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Human Genetics and Genomics Medicine

About us

Our group works across the whole spectrum of genomic research.

Our research covers population statistical genetics and method development, through basic fundamental science (to understand how and why variation in the human genome and transcriptome alter health risks and outcomes) to translational research - where our findings feed back into the clinic to inform precision therapies. 

While some of our research projects focus on specific disease areas, we apply an array of contemporary techniques across a vast array of clinical areas. We regularly apply ‘Omics technologies to generate vast data and so are heavy users of the University's High Performance Computing infrastructure. 

We maintain strong links with the Clinical Informatics Research Unit, NHS Secure Data Environments and activities embedded with the Southampton NIHR BRC's Data, Health and Society theme. In addition to short and long read DNA and RNA sequencing, we apply metabolomics, proteomics and microbiome analyses.  For integration of longitudinal clinical data with layered ‘omics data, we collaborate frequently with research colleagues from Electronics and Computer Science, Systems Biology and Mathematics to model disease. In the wet laboratories, we use cell and 3-D models to elucidate critical function. 

Much of our research benefits from particularly strong ties with clinical colleagues at University Hospital Southampton especially Clinical Genetics, Paediatrics, Oncology and Wessex Genomics Laboratories (Southampton & Salisbury). Our staff perform key roles in the NHS Genomic Medicine Service and run projects within the Genomic England Research Environment.