PANGAIA Seminar Series #3


The seminar will be held over Microsoft Teams and to simplify matters, I would like to ask everyone interested in the seminar series to register here:

Simone Zaccaria, UCL Cancer Institute
Investigating the role of somatic copy-number alterations in shaping the landscape of cancer genomes
Monday, April 19, 2021, 11:00-12:00 CEST
Click here to join the meeting


Cancer results from an evolutionary process in which somatic mutations accumulate in distinct subpopulations of cells, yielding highly heterogeneous tumours. Most cancer sequencing studies investigate this evolutionary process by only considering single-nucleotide variants (SNVs), but other important genetic alterations substantially characterise the landscape of cancer genomes. In particular, copy-number alterations (CNAs) are very frequent cancer events that either amplify or delete large genomic regions, entire chromosomes, and even the whole genome. However, the identification of CNAs from DNA sequencing data is particularly challenging, especially due to the presence of subclonal CNAs, that are different CNAs present in distinct subpopulations of cells. Importantly, CNAs target large genomic segments and also affect all the overlapping SNVs by changing the related number of mutated copies and possibly yielding mutation losses. In this talk, I will present some computational methods that we have recently introduced to analyse intra-tumour heterogeneity by identifying subclonal CNAs and their effects on the observed SNVs. Specifically, these methods leverage the joint information across multiple samples obtained from the same cancer patient to robustly identify the presence of subclonal CNAs as well as to account for the presence of different mutated copies for SNVs and potential mutation losses.

Short Bio

Dr Simone Zaccaria is the group leader of the Computational Cancer Genomics research group at the UCL Cancer Institute in London, UK. Additionally, he is a Visiting Scientist at the Francis Crick Institute and he serves as Deputy Lead of the Informatics Core of the CRUK Lung Cancer Centre of Excellence. In 4 years, Dr Zaccaria completed his research training in cancer computational biology as a Postdoctoral Research Associate at Princeton University in USA with Professor Ben Raphael, after receiving a PhD in Computer Science at the University of Milano-Bicocca in Italy under the supervision of Professor Paola Bonizzoni. Currently, his research concerns the design and development of computational methods to investigate cancer evolutionary processes from the analysis of the data generated by cutting-edge sequencing technologies, including single-cell sequencing, multi-site sequencing, and liquid biopsies.