Nanopore-based random genomic sampling for intraoperative molecular diagnosis.

ABSTRACT:

Background

Central nervous system tumors are among the most lethal types of cancer. A critical factor for tailored neurosurgical resection strategies depends on specific tumor types. However, it is uncommon to have a preoperative tumor diagnosis, and intraoperative morphology-based diagnosis remains challenging. Despite recent advances in intraoperative methylation classifications of brain tumors, accuracy may be compromised by low tumor purity. Copy number variations (CNVs), which are almost ubiquitous in cancer, offer highly sensitive molecular biomarkers for diagnosis. These quantitative genomic alterations provide insight into dysregulated oncogenic pathways and can reveal potential targets for molecular therapies.

Methods

We develop iSCORED, a one-step random genomic DN

SUBMITTER: Emiliani FE 

PROVIDER: S-EPMC11744943 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature