Adult acute myeloid leukemia (AML) presents significant treatment challenges, with a mere 15% five-year survival rate. This study delves into the structural variations (SVs) in DNA, which are pivotal in the development of cancer yet challenging to analyze with existing techniques. Here, a novel approach is being explored through the use of optical genome mapping (OGM) combined with whole-transcriptome sequencing (WTS). This integration of OGM and WTS is geared towards identifying novel mutated genes and disrupted biological pathways specific to AML. The research aims to correlate genetic findings with clinical data, opening the possibility of discovering new biomarkers and distinct AML subtypes. Such findings could pave the way for more personalized treatment approaches and enhanced patient prognosis. Beyond AML, this study underscores the significance of advanced genomic technologies in broadening our understanding of various cancers and genetic diseases.

2024

2028