Advanced molecular neuropathology to increase diagnostic accuracy in pediatric neurooncology

Study ID Alternative Stable ID Type
EGAS00001006680 Other

Study Description

To assess their utility in routine neuropathology, we prospectively integrated DNA methylation-based CNS tumor classification and targeted gene panel sequencing of tumor and constitutional DNA with blinded neuropathological reference diagnostics for a population-based cohort of > 1,200 newly-diagnosed pediatric patients.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
Dataset containing 2068 WES tumor and control samples of central nervous system neoplasm patients. The data was sequenced on a Illumina NextSeq 500 using a NPHD2015A kit. The sequencing was always paired.
NextSeq 500 2068

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