Research

My research focuses on developing computational methods to aid the diagnosis of rare genetic disease and the discovery of new causal variants, with a particular emphasis on Short Tandem Repeats (STRs). These 1–6 bp repetitive DNA sequences comprise ~3% of the human genome and are highly variable. Expansions in dozens of STR loci cause Mendelian human diseases such as Huntington’s disease, myotonic dystrophy and ataxia, yet these loci are often overlooked when diagnosing rare disease. Moving forward, I intend to build on my experience in developing methods to detect STR expansions, extending and applying this to understanding population variation, the discovery of new STR disease loci, and ultimately, give a genetic diagnosis to more families facing rare disease. Drawing together my experience with STR calling and variant prioritization I will continue to work with researchers and clinicians to help discover new disease variants, drawing on current and emerging sequencing technologies.