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.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
| 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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