PATH-06. Molecular subgrouping of medulloblastoma via low-depth whole genome bisulfite sequencing
Autor: | Dean Thompson, Jemma Castle, Debbie Hicks, Ed Schwalbe, Steve Clifford |
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Rok vydání: | 2022 |
Předmět: | |
Zdroj: | Neuro-Oncology. 24:i159-i159 |
ISSN: | 1523-5866 1522-8517 |
Popis: | INTRODUCTION: International consensus recognises four molecular subgroups of medulloblastoma, each with distinct molecular features and clinical outcomes. Assigning molecular subgroup is typically achieved via the Illumina DNA methylation microarray. Given the rapidly-expanding WGS capacity in healthcare institutions, there is an unmet need to develop platform-independent, sequence-based subgrouping assays. Whole genome bisulfite sequencing (WGBS) enables the assessment of genome-wide methylation status at single-base resolution. To date, its routine application for subgroup assignment has been limited, due to high economic cost and sample input requirements. Currently, no optimised pipeline exists that is tailored to handle samples sequenced at low-pass (i.e. |
Databáze: | OpenAIRE |
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