Prasun Dutta

I am a bioinformatics researcher with over seven years of experience in the analysis and interpretation of genomic data from both long- and short-read sequencing platforms, including Illumina, Oxford Nanopore Technologies (ONT), and PacBio.

Currently, I work as a Senior Bioinformatician at the Centre for Human Genetics, University of Oxford, in the group of Professor Jenny Taylor. My research focuses on the genetics of rare diseases, with a particular emphasis on long-read sequencing technologies and structural variant detection. I am also actively involved in mining the Genomics England (GEL) dataset to identify genetic variants that cause splicing defects in rare neurological and musculoskeletal disorders.

Previously, I was a Postdoctoral Bioinformatician at the Institute of Genetics and Cancer, University of Edinburgh, in Professor Tim Aitman’s group (Centre for Genomic and Experimental Medicine). There, I led the bioinformatics analysis of structural variants using ONT long reads as part of the Scottish Genomes Partnership (SGP) project, aimed at diagnosing unresolved rare disease cases.

I hold a PhD in Developmental Biology from the Roslin Institute, University of Edinburgh, supervised by Professor David Hume, Dr. James Prendergast, and Professor Eileen Wall. My doctoral research involved one of the first high-resolution studies of evolutionary and regulatory variation in the domesticated water buffalo (Bubalus bubalis). Using DNA-seq and RNA-seq data, I characterised regulatory variation in immune cells, with a focus on allele-specific expression in macrophages, and investigated signatures of selection and breed divergence across buffalo populations from India, Italy, and the UK.

In earlier roles at the Open Source Drug Discovery Unit, Government of India, I also contributed to computational drug discovery and tuberculosis research.