Linked-read based analysis of the medulloblastoma genome.

ABSTRACT:

Introduction

Medulloblastoma is the most common type of malignant pediatric brain tumor with group 4 medulloblastomas (G4 MBs) accounting for 40% of cases. However, the molecular mechanisms that underlie this subgroup are still poorly understood. Point mutations are detected in a large number of genes at low incidence per gene while the detection of complex structural variants in recurrently affected genes typically requires the application of long-read technologies.

Methods

Here, we applied linked-read sequencing, which combines the long-range genome information of long-read sequencing with the high base pair accuracy of short read sequencing and very low sample input requirements.

Results

We demonstrate the detection of complex structural variants and point mutation

SUBMITTER: Zwaig M 

PROVIDER: S-EPMC10419201 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature