Computational Genomics


The main focus of our group is to decipher and understand the biology of genomes. In the Cancer area, the final goal of the tumour genome analysis is to translate all the knowledge into effective and specific clinical protocols for treatment.

SMuFin (Somatic MUtation FINder) is a reference-free method designed to identify somatic variation on tumour genomes from the direct comparison with the corresponding normal genome of the same patient. Through a single execution, SMuFin is able to identify somatic single nucleotide variants (SNVs) and structural variants (SVs) of any size. The current version of the program cannot detect complete losses of chromosome arms, variants flanked by palindromic sequences or copy number variants (CNVs) at a quantitative level.