AMC Neuroblastoma Study

jankoster@amc.uva.nl

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Dataset ID	Description	Technology	Samples
EGAD00001000196	Neuroblastoma samples	Complete Genomics	203
EGAD00001000202	Neuroblastoma samples (Analyses_vcf files)		204
EGAD00001001635	Whole genome sequencing detected structural rearrangements of TERT in 17/75 high stage neuroblastoma with 5 cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted immediate up- and down-stream regions of TERT, placing in 7 cases a super-enhancer close to the breakpoints. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high stage neuroblastoma, each associated with very poor prognosis. This submission contains all newly sequenced samples only.study_refcenter AMC		42
EGAD00010000552	Neuroblastoma samples		130