Dataset Information
Detection of structural DNA variants in medulloblastomas using optical genome mapping.
Ontology highlight
ABSTRACT:
SUBMITTER: Kubon N
PROVIDER: S-EPMC12930802 | biostudies-literature | 2026 Feb
REPOSITORIES: biostudies-literature
Publications
Detection of structural DNA variants in medulloblastomas using optical genome mapping.
Acta neuropathologica communications 20260211 1
Medulloblastoma (MB) is the most common malignant brain tumor in children that is subdivided into distinct MB groups characterized by specific genetic, epigenetic, and transcriptional profiles. In addition to single nucleotide variants, structural variants (SVs), including DNA deletions, duplications, focal gene amplifications, translocations and inversions, may contribute to MB pathogenesis. However, comprehensive profiling of SVs is challenging, as established cytogenetic methods such as karyo ...[more]
