Use of Optical Genome Mapping to Detect Structural Variants in Neuroblastoma.

ABSTRACT:

Background

Neuroblastoma is the most common extracranial solid tumour in children, accounting for 15% of paediatric cancer deaths. Multiple genetic abnormalities have been identified as prognostically significant in neuroblastoma patients. Optical genome mapping (OGM) is a novel cytogenetic technique used to detect structural variants, which has not previously been tested in neuroblastoma. We used OGM to identify copy number and structural variants (SVs) in neuroblastoma which may have been missed by standard cytogenetic techniques.

Methods

Five neuroblastoma cell lines (SH-SY5Y, NBLW, GI-ME-N, NB1691 and SK-N-BE2(C)) and two neuroblastoma tumours were analysed using OGM with the Bionano Saphyr^® instrument. The results were analysed using Bionano Access software a

SUBMITTER: Barford RG 

PROVIDER: S-EPMC10647738 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature