After I did my bachelor’s in mathematics and computing (IIT Delhi), I was convinced that I wanted to put my skills to use somewhere I can positively impact the lives of people. I decided to do an interdisciplinary master’s in Bioinformatics (University of Birmingham, UK) to get a head start on the use of informatics in the field of biology. During my stay in the UK, I was heavily involved in the COVID research on cancer patients with UKCCMP (UK Coronavirus Cancer Monitoring Project) which further motivated me to work towards health science and genetics-based research. With ENHPATHY, not only do I get excellent support and resource to undergo my research but also a platform to connect with the masses and spread awareness about the importance of such initiatives.
Apart from my research, I enjoy learning new languages and cultures. I am an avid consumer of Japanese literature and media, and also enjoy learning the language. I find my solace in meticulous artwork and building things from scratch. I indulge in painting, piano, embroidery, crochet, building miniature models, and reading books. I also enjoy volunteering for different activities like walking dogs, teaching children, or helping with elderly care. As for sports, I have always loved fencing and swimming.
Functional annotation 10 human genomes to aid the identification of disease-causing non-coding sequence variants (WP1)
We have previously shown how our SuRE assay can be used to test non-coding sequence variants for their effect on promoter and enhancer activity. In this project we will establish a database with millions of non-coding sequence variants – all functionally annotated for their effect on enhancer and promoter activity in several disease-relevant cell types. We believe this will be an important resource for strategies aiming to link genotypes to phenotypes (e.g. GWAS and eQTL studies). The task of the student will be to develop effective methods for the integration, analysis and visualization of these large-scale datasets.
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This project has received funding from the European Union’s Horizon 2020 research and innovation programme under the Marie Sklodowska-Curie grant agreement No 860002. The information contained in this website reflects only the authors’ view. REA and EC are not responsible for any use that may be made of this information.
Francesco Leonetti (ESR15) 
Joris van Arensbergen (Supervisor)