Study

Robust methylation-based classification of brain tumours using nanopore sequencing

Study ID Alternative Stable ID Type
EGAS00001006540 Other

Study Description

Background: DNA methylation-based classification of cancer provides a comprehensive molecular approach to diagnose tumours. In fact, DNA methylation profiling of human brain tumours already profoundly impacts clinical neuro-oncology. However, current implementations using hybridization microarrays are time-consuming and costly. We recently reported on shallow nanopore whole-genome sequencing for rapid and cost-effective generation of genome-wide 5-methylcytosine profiles as input to supervised classification. Here, we demonstrate that this approach allows to discriminate a wide spectrum of primary brain tumours. Results: Using public reference data of 82 distinct tumour entities, we performed nanopore genome sequencing on N=382 tissue samples covering 46 brain tumour (sub)types. Using bootstrap sampling in a cohort of N = 56 cases, we find that a minimum set of 1,000 random CpG features is sufficient for high-confidence classification by ad hoc random forests. We implemented score recalibration as confidence measure for interpretation in a clinical context and empirically determined ... (Show More)

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001009663
Nanopore low-pass WGS of human brain tumors for evaluation of DNA methylation-based classification of cancer
MinION 16

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