Research Interests

Our research focuses on rare genetic diseases, combining clinical and molecular approaches to improve genetic diagnostics, refine genotype–phenotype correlations, and advance our understanding of disease biology. A central interest is structural genomic variation, how it forms and how it causes human disease. The group characterizes chromosomal rearrangements using a range of short- and long-read sequencing methodologies, with functional follow up in induced pluripotent stem cells. More recently, we have spearheaded efforts to introduce long-read genome sequencing and transcriptome analysis into clinical diagnostics to improve diagnostic yield. We are  also driving computational development toward more comprehensive variant discovery, including improved calling across variant classes, as well as approaches based on de novo assemblies and graph genomes.