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WHO classification for tumors of the central nervous system strongly endorses molecular tests for the precise diagnosis of diffuse gliomas. While alterations in the DNA methylation status of gliomas are already well documented and used in specialised clinical centers to distinguish between brain tum...
ORGANISM(S): Homo sapiens (Human) 
2020-01-17 | PXD015151 | Pride
Recent technological advances in molecular diagnostics through liquid biopsies hold the promise to monitor tumor evolution and treatment response of brain malignancies without the need of invasive surgical tissue accrual. Here, we implemented a new mass spectrometry-based protein analysis pipeline a...
ORGANISM(S): Homo sapiens (Human) 
2021-03-25 | PXD021984 | Pride
Low-coverage whole genome sequencing of sporadic schwannomatosis patients
Exome sequencing of sporadic schwannomatosis patients
Schwannomatosis (MIM #162091) is characterized by the development of multiple schwannomas without vestibular nerve involvement (which is a characteristic of neurofibromatosis type 2 - NF2). In an effort to detect novel genetic alterations predisposing to schwannomatosis, we sequenced eight tumor-blo...
Bam files for 124 samples (62 tumor vs blood pairs); Whole Genome Sequencing performed on Illumina HiSeq X Ten
Bam files for 16 meningioma tumor samples; ChIPseq performed on Illumina HiSeq 2000
DNA methylation patterns delineate clinically relevant subgroups of meningioma. We previously established the six meningioma methylation classes (MC) benign-1, 2, 3, intermediate-A, B and malignant. Here, we set out to identify subgroup-specific mutational patterns and pathway regulation. Whole-gen...
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