I am a postdoctoral researcher with Professor Andrew Wilkie and Professor Anne Goriely at the Weatherall Institute of Molecular Medicine (WIMM), as well as with Professor Gil McVean at the Oxford Big Data Institute (BDI). I am a Junior Research Fellow (JRF) in Wolfson College.
My research focuses on leveraging methods such as single-cell RNA-seq and whole-genome sequencing to understand and diagnose human disease. At the WIMM, I study this question in the context of craniosynostosis, a rare disease affecting about 1 in 2,000 children in the UK. In addition, I work on processing and interpreting data generated from targeted sequencing experiments such as smMIP and amplicon sequencing, for which I have developed a pipeline called amplimap.
I obtained my PhD in Bioinformatics from the University of Cambridge, working in the research group of Professor Ewan Birney at the European Bioinformatics Institute studying natural genetic variation associated with gene expression levels (eQTLs). My PhD thesis was titled Quantitative genetics of gene expression during fruit fly development.