Study
Reliable assessment of telomere maintenance mechanisms in neuroblastoma
| Study ID | Alternative Stable ID | Type |
|---|---|---|
| EGAS00001006510 | Other |
Study Description
Telomere maintenance mechanisms (TMM) are a hallmark of high-risk neuroblastoma, and are conferred by activation of telomerase or alternative lengthening of telomeres (ALT). However, detection of TMM is not yet part of the clinical routine, and consensus on TMM detection, especially on ALT assessment, remains to be achieved.
We here propose a workflow to reliably detect TMM in neuroblastoma. We show that unambiguous classification is feasible following a stepwise approach that determines both, activation of telomerase and ALT. The workflow proposed in this study can be used in clinical routine and provides a framework to systematically and reliably determine telomere maintenance mechanisms for risk stratification and treatment allocation of neuroblastoma patients.
Study Datasets 1 dataset.
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| Dataset ID | Description | Technology | Samples |
|---|---|---|---|
| EGAD00001009289 |
Paired-end WGS data of 10 neuroblastoma patient samples (5 obtained at diagnosis and 5 matched blood samples as controls) used for analysis of telomeric content and sequence composition. Mean coverage is 11-65x per sample. The remaining patient samples of the dataset can be found under accession numbers EGAS00001001308 and EGAS00001005424 and mappings of the patients IDs in the supplementary material of the publication.
|
Illumina HiSeq 2000,Illumina NovaSeq 6000 | 10 |
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