Study

Next generation sequencing of sporadic schwannomatosis samples

Study ID Alternative Stable ID Type
EGAS00001000767 Other

Study Description

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-blood DNA pairs from de novo schwannomatosis patients. The results of our study are present in the paper "Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants" published in Acta Neuropathologica (PMID:25008767)

Study Datasets 2 datasets.

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Dataset ID Description Technology Samples
EGAD00001000963
Exome sequencing of sporadic schwannomatosis patients
16
EGAD00001000964
Low-coverage whole genome sequencing of sporadic schwannomatosis patients
16

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