In 2011, after my undergraduate studies in genetics at the University of Queensland, I started my PhD with Peter Donnelly at the Wellcome Trust Centre for Human Genetics in Oxford. There, I worked on an eclectic set of projects. As part of the WGS500 project (clinical whole-genome sequencing of various disorders), I analysed data from families with severe neurological diseases, and also evaluated different approaches for pinpointing causal mutations. I also conducted a meta-analysis of multiple cohorts in order to address the effect of maternal age on recombination rates, which had previously been controversial. Finally, I worked on population sequencing study of the platypus to investigate the population structure and history of this unique species, as well as its ten sex chromosomes.
I moved to the Sanger Institute in 2016 as a postdoc with Jeff Barrett. My major focus was on exploring genetic architecture in the Deciphering Developmental Disorders (DDD) study, a large cohort of exome-sequenced individuals with rare developmental disorders. Specifically, I looked at the role of rare recessive variants and polygenic risk.
I became a Group Leader in Human Genetics in September 2018. My group analyses large-scale genetic and electronic health record data to explore fine-scale population structure, its impact on disease risk, and the genetic architecture of both rare and complex diseases. We have a particular focus on populations with high levels of parental relatedness (consanguinity). For an approximately up-to-date list of our papers and preprints, please see the lab webpage.