Assembling Chromothripsis in Multiple Myeloma

Chromothripsis, a phenomenon characterized by complex chromosomal rearrangements, has garnered significant attention in cancer research due to its potential implications in disease pathogenesis and progression. In this study, we investigate the role of chromothripsis in multiple myeloma (MM) using the EJM cell line as a model system. Through a comprehensive analysis of genome assembly methods and alignment algorithms, we aim to elucidate the impact of chromothripsis on the genomic landscape of MM and its potential clinical relevance. Our results highlight the efficacy of HifiASM and Shasta assemblers in handling complex genomic rearrangements associated with MM, suggesting their utility in genomic research and clinical applications. Comparative analyses of alignment lengths and coverage provide insights into assembly methodologies and algorithmic nuances, emphasizing the importance of selecting appropriate tools for accurate reconstruction of chromothripsis-affected genomes. Additionally, our study underscores the need for further optimization of assembly methodologies and analysis metrics, as well as the exploration of novel therapeutic strategies targeting chromothripsis-mediated genomic alterations in MM. Overall, our findings contribute to a deeper understanding of chromothripsis in MM pathogenesis and pave the way for personalized treatment approaches in MM patients.