Martin focuses on exploring the future technology, tools and pipelines for the processing of human data at the Sanger Institute and beyond. His PhD research project is centred on techniques for exploring and interpretting complex genomic variation.

I am currently engaged in developing computational techniques for characterising the Human Leukocyte Antigen (HLA) in African populations with the aim of developing a scalable technique for thousands of samples. I also contribute to the Samtools software suite and various other genomics tools.

The HLA region is scientifically important because of the role the genes in this area of the genome play in immune response. Association studies have linked the HLA to sizeable effects on the development and progression of many communicable and non-communicable diseases. Our research to develop HLA population reference materials for African populations will increase our power to detect and finemap novel HLA variation benefiting not only our own studies but also those of other researchers.

The African continent is one of the most genetically diverse places on Earth, with many populations harbouring variation never before observed. This variation gives us the ability to study the regions of the genome, inaccessible in other populations and provides insights into the causes of the many diseases affecting this continent. Additionally African genome variation research not only supports disease research but also gives us valuable insights into the history of mankind, allowing us to study the great human migrations of the past.

 

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