This person is a member of Sanger Institute Alumni.
I am a PhD student in David Adams' group funded by a Marie Skłodowska-Curie Actions grant as part of the MELGEN training network. My work focusses on the identification of novel variants and genes which predisposes individuals towards the development of familial melanoma through bioinformatics approaches. While genome-wide association studies in sporadic cases and exome analysis of familial melanoma pedigrees has helped to identify loci linked to the development of the disease, these studies have explained the predisposition to melanoma in only a fraction of the familial cases. 308 individuals from 135 different families previously diagnosed with melanoma were sequenced through a mixture of exome or whole-genome sequencing for the purpose of this project, making it the largest dataset of its kind. The information from this dataset will be analysed through the development of multiple workflows. These workflows will focus on different aspects of genomic variation independently including variants in the coding region of the genome, the non-coding region of the genome, and structural variants.