EGAC00001000047

EGAC00001000047

DAC Accession Contact Person Email Access Information
EGAC00001000047 Jan Koster jankoster@amc.uva.nl http://www.ebi.ac.uk/ega/dacs/EGAC00001000047

This DAC controls 4 datasets:

Dataset Accessionsort descending Technology Samples Description
EGAD00001000196 Complete Genomics; 203 Neuroblastoma samples
EGAD00001000202 204 Neuroblastoma samples (Analyses_vcf files)
EGAD00001001635 42 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
EGAD00010000552 130 Neuroblastoma samples

DAC description