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Series GSE280038 Query DataSets for GSE280038
Status Public on Nov 16, 2024
Title Nanopore Sequencing as a Cutting-Edge Technology for Medulloblastoma Classification
Organism Homo sapiens
Experiment type Methylation profiling by high throughput sequencing
Summary Background: Medulloblastoma (MB) is one of the most prevalent embryonal malignant brain tumors. Current classification organizes these tumors into four molecular groups (WNT-activated, SHH-activated and TP53-wild type, SHH-activated and TP53-mutant, and non-WNT/non-SHH). Recently, a comprehensive classification has been established, identifying numerous subgroups, some of which exhibit a poor prognosis. It is critical to establish effective subgrouping methods for accurate diagnosis and patient’s management that strikes a delicate balance between improving outcomes and minimizing the risk of comorbidities.
Methods: We evaluated the ability of Nanopore sequencing to provide clinically relevant methylation and copy number profiles of MB. Nanopore sequencing was applied to an EPIC discovery cohort of frozen MB, benchmarked against the gold standard EPIC array, and validated further evaluated on an integrated diagnosis cohort of MB.
 
Overall design For whole-genome Nanopore sequencing, DNA libraries were prepared using the SQK-RBK004 rapid barcoding kit from Oxford Nanopore Technologies. Two types of flow cells were used: MinION R9.4.1 (FLO-MIN106D) and Flongle R9.4.1 (FLO-FLG001). For MinION flow cells, 400 ng of DNA were tagmented, barcoded, repaired, and pooled in batches of six samples before adaptor ligation. Sequencing involved multiplexing six libraries, with each batch taking 48 to 72 hours per MinION R9.4.1 flow cell. For Flongle flow cells, the same SQK-RBK004 kit (Oxford Nanopore Technologies) was used, but 200 ng of DNA per tumor sample was sequenced individually on a Flongle flow cell for 24 hours. All sequencing was performed on MinION Mk1B or Mk1C devices, and sequencing runs were initiated and monitored using MinKnow software from Oxford Nanopore Technologies.
 
Contributor(s) Filser M, Masliah-Planchon J, Torrejon J, Ayrault O
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Submission date Oct 22, 2024
Last update date Nov 16, 2024
Contact name Mathilde Filser
E-mail(s) [email protected]
Organization name Institut Curie
Department Genetics Department
Street address 26 rue d'Ulm
City Paris
ZIP/Postal code 75005
Country France
 
Platforms (1)
GPL24106 MinION (Homo sapiens)
Samples (158)
GSM8586049 Medulloblastoma frozen tumor, SHH, M001RB10
GSM8586050 Medulloblastoma frozen tumor, SHH, M005RB01
GSM8586051 Medulloblastoma frozen tumor, Non-WNT/Non-SHH, M005RB02
Relations
BioProject PRJNA1176014

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE280038_RAW.tar 4.2 Gb (http)(custom) TAR (of TSV)
SRA Run SelectorHelp
Raw data are available in SRA

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