Akademik Veri Yönetim Sistemi
17th International Symposium on Health Informatics and Bioinformatics, İstanbul, Türkiye, 18 Aralık 2024, (Özet Bildiri)
Analyzing Replication Timing of Genes Across Di_erent Cell Lines Abdullah Tercan1, Burçak Otlu1,* 1Department of Health Informatics, Graduate School of Informatics, Middle East Technical University, Ankara, Turkey Presenting Author: burcako@metu.edu.tr *Corresponding Author DNA replication, while essential for genetic inheritance, is also a significant source of mutations. This process is highly orchestrated, with diÉerent genomic regions replicating at specific times during the S phase of the cell cycle. The replication timing is intimately linked to mutation rates, both in germline and somatic cells. Certain mutational signatures, such as those associated with UV exposure and tobacco smoking, exhibit a preference for late-replicating regions, while others, like those linked to DNA repair deficiency and alcohol consumption, tend to occur in early- replicating regions. This specificity highlights the complex relationship between replication timing and the mutation rate. Replication timing of genomic regions can be used to explain the accumulation of mutations. In this study, we quantitatively analyze the replication timing of protein- coding genes across multiple cell lines using SigProfilerTopography. We assign higher scores to genes that replicate earlier. By investigating the mutation burden of these genes in various cancer types, we aim to develop a model that can explain the accumulation of mutations based on their replication timing preferences and the specific mutational signatures involved. This research has the potential to provide valuable insights into the mechanisms underlying mutagenesis. It can serve as a resource for future studies focusing on mutation rate, genome evolution, and cancer development. Keywords: DNA Replication Timing