{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["N/A"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001000963"],"sample_count":["16"],"description":["EGA dataset EGAD00001000963"],"repository":["EGA"],"title":["Schwannomatosis WES data"],"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":["Vasp, VASP, Data Set., DmelCG15112, ENHANCER OF ATNSI ACTIVITY, MENA, NDPP1, l(2)02029, Enb, enb, ENA, Ena, CG15112, ENA/VASP"],"description_synonyms":["WES, Complete Transcriptome, Complete, Complete Transcriptome Sequencing, Exome Sequencings, Complete Exome Sequencings, schwannomatosis, Complete Exome, Complete Exome Sequencing, Whole Transcriptome Sequencing, Exome, neurinoma, neurilemmomatosis congenital cutaneous, Sequencing, Neurilemmomatosis, neurilemmomatosis, congenital cutaneous, Exome Sequencing, Whole Exome, congenital cutaneous neurilemmomatosis, Client., Patient, Clients, Whole, NEC, Whole Exome Sequencing, NOS, Whole Transcriptome, Transcriptome Sequencing, Schwannomatosis 1, Transcriptome Sequencings"],"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":"ena-DATASET-DKFZ-IBIOS-01-08-2014-08:47:40:399-28 - samples","description":"Exome sequencing of sporadic schwannomatosis patients","dates":{"updated":"2017-07-26 15:39:26"},"accession":"EGAD00001000963","cross_references":{"TAXONOMY":["9606"],"pubmed":["25008767"],"EGA":["EGAC00001000219","EGAS00001000767"]}}