Next Generation Sequencing Bioinformatics

Next Generation Sequencing is an exciting field for genomics and medicine: many different applications converge with a single technology, and data integration finally becomes a more concrete possibility.

I had the opportunity to develop the NGS analysis pipeline for UCL Genomics when I moved to the University College London, and I have analysed a considerable number of Exome, RNAseq and whole genome sequencing data.

My expertise in bioinformatic data analysis spans across the different applications of NGS, and is more focused on human genetics, due to my strong background in immunology and genetics of healthy ageing in Humans.
Thanks to my biological and medical education, my main interest in bioinformatics addresses methods for a richer annotation of sequencing results, and the development of workflows for NGS to have an impact in diagnostics and translational medicine. I am particularly intrigued by the issue of the missing heritability.

I’m interested in collaborations addressing different human pathologies, where the understanding of the role played by genetic and non-genetic variations is fundamental.

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