I'm interested in leveraging whole genome sequencing (WGS) data to understand the relationship between genotype and phenotype. In particular, I've focused on developing tools and methods to dissect the repercussions of structural variation - gains and losses of DNA content - on:
- mechanisms of disease
- variation among individuals
- evolution of species.
In the Taylor group, I've applied next generation sequencing (NGS) pipelines and developed methods to analyse WGS data collected from patients with rare disease and/or cancer.
In collaboration with clinical researchers and the Oxford Biomedical Research Centre, we applied our tools to WGS data of individuals with clinical phenotypes spanning a wide range of disorders. Ongoing projects aim to detect candidate mutations that can shed light on unsolved cases, and illuminate the overall contribution of TEs to human disease.