LADE Meeting
Lucrezia Valeriani
Title: Copy Number Alteration Calling, DNA Methylation, and the Role of Oxford Nanopore Sequencing
Abstract
Copy Number Alterations (CNAs) play a vital role in cancer genomics, representing abnormal DNA segment gains or losses influencing cancer development. Detecting CNAs accurately is crucial but challenging due to tumor heterogeneity and genomic complexity. Traditional CNA analysis yields an averaged view at the chromosome level. Yet, recent technologies enable haplotype-specific CNA detection, differentiating alleles within an individual’s genome. Integrating DNA methylation data offers a comprehensive perspective on epigenetic changes in haplotype-specific CNAs. Oxford Nanopore long-read sequencing technology facilitates concurrent analysis of mutations, methylation, and CNAs within the same data promising a comprehensive view of CNA events. The talk will introduce these concepts and present preliminary results.
Area Science Park - RIT
Research Institute
The Institute of Research and Innovation Technology (RIT) at Area Science Park carries out cutting-edge research and provides services and consulting to public and private-sector users through its three laboratories equipped with state-of-the-art technology.