{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Other"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001000767"],"host":["EGA"],"description":["EGA study EGAS00001000767"],"dataset_title":["Schwannomatosis lcWGS data","Schwannomatosis WES data"],"category":["restricted"],"repository":["EGA"],"pubmed_title":["Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants."],"pubmed_authors":["Hutter Sonja S, Piro Rosario M RM, Reuss David E DE, Hovestadt Volker V, Sahm Felix F, Farschtschi Said S, Kehrer-Sawatzki Hildegard H, Wolf Stephan S, Lichter Peter P, von Deimling Andreas A, Schuhmann Martin U MU, Pfister Stefan M SM, Jones David T W DT, Mautner Victor F VF"],"name_synonyms":["neurinoma, neurilemmomatosis, congenital cutaneous, NOS, Schwannomatosis 1, neurilemmomatosis congenital cutaneous., congenital cutaneous neurilemmomatosis, schwannomatosis, NEC, Neurilemmomatosis"],"description_synonyms":["mimb, Acoustic Neurofibromatosis, mima, type 2, BTBD29, Neurofibromatosis Type 2, Neurofibromatosis (morphologic abnormality), single-organism developmental process, CFTD, postnatal development, neurinoma, ACTA, MIMA, MCI2.2, MIMB, growth and development, Scarpas Ganglion, Tumor, Scarpa's Ganglion, acta, congenital cutaneous, MCI2_2, Bilateral Acoustic Schwannomas, \"central Neurofibromatosis\" EXACT [NCI2004_11_17:C3274], BANF, Bilateral Acoustic, Neuroma, MIM, Mim, Whole Transcriptome, Transcriptome Sequencing, Neurofibromatosis, Acoustic Schwannomas, Schwannomatosis, cftd, Neurofibromatosis Type II, thymus nucleic acid, Neurilemmomas, Neurofibromatosis 1, Complete Exome Sequencing, Whole Transcriptome Sequencing, mim, Familial, NF2s (Neurofibromatosis 2), genetic, 2310003N14Rik, RDT, ACN, SNF5, Snf5, Central Neurofibromatoses, \"neurofibromatosis type 2 [acoustic neurofibromatosis]\" EXACT [], Malignancies, Double-Stranded DNA, Schwannomatosis 1, deoxyribonucleic acids, DNAn, Plexiform Schwannomatoses, SWNTS1, NEM1., SNF5|INI1, SWNTS2, Central NF2, Tumors, Scarpa Ganglion, Papers, AI591627, vestibular root of acoustic nerve, Type II Neurofibromatoses, Ganglion, Exome, familial, Neurilemoma, Nerves, Double-Stranded, results, neurofibromatosis central type, (Deoxyribonucleotide)n+m, Neurinoma, Benign, NF2 (Neurofibromatosis 2), AW550890, Schwannomas, Bilateral Acoustic Neurinomas, acoustic schwannomas bilateral, NOS, desoxyribose nucleic acid, scarpa's ganglion, neurofibromatosis type IV, Complete Transcriptome, Neurofibromatosis IIs, INI1, Ini1, vestibulocochlear nerve vestibular root, Benign Neoplasms, Neuromas, Type 2, Neurilemmomatosis, Malignant Neoplasms, AU020204, type II, neurolemmoma, ATRAD18, Patient, Recklinghausen's neurofibromatosis, ds DNA, Whole Exome Sequencing, Familial Acoustic, inherited genetic, DNA, neurofibromatosis type 1, neurofibromatosis type 2, other neoplasm, Acoustic Schwannoma, Transcriptome Sequencings, mtss1, Vestibular Nerves, SMC6B, vestibulocochlear VIII nerve vestibular component, acoustic neurinoma bilateral, neurofibromatosis type 4, DNS, (Deoxyribonucleotide)n, Complete Exome, Type II Neurofibromatosis, BC024131, Neoplasms, Nerve, Benign Neoplasm, Acoustic Neurinomas, cftdm, neurofibromatosis, Malignant, Deoxyribonucleic acids, SNF5L1, Bilateral Acoustic Schwannoma, Deoxyribonucleic Acid, vestibular root of eighth cranial nerve, neurofibromatosis type II, \"Neurofibromatosis, hSNFS, scarpa ganglion, acoustic neurinoma, Acoustic neurofibromatosis, hypersensitive to MMS, central type, study, WES, Complete, Exome Sequencings, Bilateral, Malignancy, CFTDM, Type 2 Neurofibromatosis, Double Stranded, Deoxyribonucleic acid, bilateral, Acoustic Neuromas, \"Neurofibromatosis 2\" EXACT [MTH:NOCODE], NEM2, ASMA, NEM3, Bilateral Acoustic Neurofibromatosis, neurilemmomatosis congenital cutaneous, Sequencing, Neoplasias, neurilemmomatosis, Whole Exome, Baf47, nem1, BAF47, asma, Clients, NEC, Whole, Familial Acoustic Neuroma, (Deoxyribonucleotide)m, SCHW, scarpas ganglion, von Reklinghausen disease, constitutitional genetic, irradiation and MMC, NF2, SNF5/INI1, Cancer, Plexiform Schwannomatosis, MPFD, Acoustic Neurofibromatoses, Malignant Neoplasm, Complete Exome Sequencings, whole blood, Central, 1200003E21Rik, DNAn+1, Schwannoma, mpfd, Central NF2 Neurofibromatosis, Client, Snr1, central Neurofibromatosis, Neurilemomas, Neurofibromatosis syndrome (disorder), development, Exome Sequencing, Acoustic, RTPS1, type IV neurofibromatosis of riccardi, acoustic Schwannomas, Neurofibromatoses, Familial Acoustic Neuromas, CFTD1, Neoplasm, D130001D01Rik, merlin, \"Acoustic neurofibromatosis\" EXACT [MTHICD9_2006:237.72], Sfh1p, ds-DNA, STRUCTURAL MAINTENANCE OF CHROMOSOMES 6B, type 2 (disorder)\" EXACT [SNOMEDCT_2005_07_31:92503002], MRD15, Neurofibromatosis II, Complete Transcriptome Sequencing, schwannomatosis, Plexiform, peripheral Neurofibromatosis, postnatal growth, nervus vestibularis, Type 2 Neurofibromatoses, Neurinomas, Cancers, Bilateral Acoustic Neurinoma, cftd1, Bilateral Acoustic Neurofibromatoses, mKIAA0429, Acoustic Neurinoma, congenital cutaneous neurilemmomatosis, Central NF2 Neurofibromatoses, PPP1R144, Acoustic Neuroma, NF 2, Central Neurofibromatosis, Desoxyribonukleinsaeure, Scarpa's, Type II, SCH, growth, hereditary, LZTR-1, Neoplasia, Vestibular"],"pubmed_title_synonyms":["BTBD29, Complete Exome Sequencings, AI591627, Complete Exome, Exome, neurinoma, Snr1, SNF5L1, congenital cutaneous, Exome Sequencing, RTPS1, AW550890, hSNFS, NOS, Whole Transcriptome, Transcriptome Sequencing, Sfh1p, MRD15, WES, Complete Transcriptome, Complete, Complete Transcriptome Sequencing, Exome Sequencings, schwannomatosis, Complete Exome Sequencing, Whole Transcriptome Sequencing, INI1, Ini1, neurilemmomatosis congenital cutaneous, Sequencing, Neurilemmomatosis, AU020204, neurilemmomatosis, RDT, Whole Exome, Baf47, 1200003E21Rik., congenital cutaneous neurilemmomatosis, BAF47, SNF5, PPP1R144, Whole, NEC, Snf5, Whole Exome Sequencing, Schwannomatosis 1, SWNTS1, SNF5|INI1, SWNTS2, Transcriptome Sequencings, SNF5/INI1, LZTR-1"],"additional_accession":[]},"is_claimable":false,"name":"Next generation sequencing of sporadic schwannomatosis samples","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)","dates":{"updated":"2017-07-26 15:39:26"},"accession":"EGAS00001000767","cross_references":{"TAXONOMY":["9606"],"pubmed":["25008767"],"EGA":["EGAD00001000963","EGAD00001000964","EGAC00001000219"]}}