I am a DPhil Medical Sciences student at the WIMM supervised by Prof. Andrew Wilkie and Dr. Stephen Twigg. My interests are specifically in structural variants larger than 50 bps and up to several mega bps, including duplications/deletions (CNVs), insertions, inversions, translocations, and other complex rearrangements.
My project aims to identify and characterise structural variants in craniosynostosis using a variety of genomic/genetic and molecular approaches. These include exome sequencing, Bionano optical mapping, chromosome conformation capture, whole exome sequencing (Genomics England), single-cell approaches, and mouse models. Currently, I am working with the structural variant call-sets from the craniosynostosis cohort within the 100,000 Genome Project in order to identify pathogenic structural variants and novel causative genes.
I also hold degrees in MPhil Genomic Medicine (Cambridge) and MSci Biochemistry (Manchester). My previous projects were “Characterising germline variants in renal cell carcinoma using whole genome sequencing” and “Identifying the causative genes in Melkerson Rosenthal syndrome with whole exome sequencing”, respectively.
Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome
Pei Y. et al, (2019), European Journal of Medical Genetics, 62, 103536 - 103536