Study
Molecular Characterization of ETMRs
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001003256 | Other |
Study Description
ETMRs are poorly characterized embryonal brain tumors with a dismal outcome. We collected tumors from 184 ETMR patients and 23 matched recurrences to investigate the genomic landscape of this distinct entity. Tumors without C19MC amplification, the proposed driver, harbor other miRNA related aberrations like DICER1 mutations and amplifications of the MIR17-92 miRNA cluster. All tumors behave molecularly similar and no subgrouping was observed. Whole-genome sequencing revealed an overall low recurrence of SNVs, but highly prevalent R-loop associated genomic instability. Finally, we show that targeting R-loops with TOP1 and PARP inhibitors might be an effective treatment strategy for this deadly disease.
Study Datasets 7 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 |
---|---|---|---|
EGAD00001006207 |
This dataset contains Mate Pair Sequencing data from 15 samples from 13 patients.
Mate pair DNA library preparation was carried out using the Illumina
MP v.2 reagents and protocol. In brief,
fragmentation of genomic DNA was performed using a Hydroshear
device to an insert size of 4.5 kb followed by sequencing with Illumina
HiSeq 2000 instruments resulting in 30 Fastq files (paired end).
|
Illumina HiSeq 2000 | 15 |
EGAD00001006208 |
This dataset contains panel sequencing data from 33 samples.
Targeted sequencing was performed by creating libraries using
the Agilent SureSelect XT technology. Libraries were sequenced
using molecular barcode-indexed ligation-based sequencing using
a NextSeq500 (Illumina) instrument. Between three and six lanes
per sample have been sequenced resulting in 262 Fastq files (paired end).
|
NextSeq 500 | 33 |
EGAD00001006209 |
The dataset contains two samples from one patient.
As a representative FFPE tissue sample, ET174 was histologically iden-
tified, targeted and microdissected with a puncher for nucleic acid
extraction. RNA was extracted using the automated Maxwell
system with the Maxwell 16 LEV RNA FFPE Kit (Promega), according to
the manufacturer’s instructions. To evaluate FFPE RNA quality, we used
the percentage of RNA fragments >200 nt fragment determination
value (DV200). Only RNA samples with DV200 ... (Show More)
|
NextSeq 500 | 2 |
EGAD00001006210 |
This dataset contains exome sequencing data from 21 samples.
Sequencing of samples using whole-exome sequencing was per-
formed by creating libraries using the IlluminaTruSeq exome enrich-
ment kit following the manufacturer’s instructions after size selection.
Size selection was performed by fractionation using a Covaris ultra-
sonicator and subsequent selection was performed using a 1.5% gel
Pippin Prep cassette (Sage Science). One lane per sample has been sequenced
resulting in 42 Fastq ... (Show More)
|
Illumina HiSeq 2000 | 21 |
EGAD00001006211 |
This dataset contains whole genome sequencing data from 59 samples.
WGS libraries were prepared using the Illumina TruSeq Nano DNA
LT Library Prep or TruSeq Nano DNA HT Library Prep Kit following
the manufacturer’s instructions. In brief, 100 ng of genomic DNA was
fragmented to approximately 350 bp using a Covaris ultrasonicator
(Covaris). The fragmented DNA was then end-repaired, size-selected
using magnetic beads, extended with an ‘A’ base on the 3′ end and ligated
with TruSeq ... (Show More)
|
HiSeq X Ten,Illumina HiSeq 2000 | 59 |
EGAD00001006218 |
This dataset contains miRNA-seq data from 10 patients.
Small RNAs were isolated as described previously57,58 from fresh-frozen
tumour material. In brief, total RNA was extracted using guanidinium
isothiocyanate/phenol extraction followed by 3′-adaptor ligation of
barcoded adenylated adaptors. Samples were pooled in two sets of five
samples. Subsequently, gel electrophoresis was used to isolate small
RNAs (19–35 nt) and purified using ethanol precipitation. Fragments
were then amplified ... (Show More)
|
Illumina HiSeq 2000 | 10 |
EGAD00001006219 |
This dataset contains DRIP-seq data from 2 patients.
DNA–RNA hybrids were extracted from tissue derived from ETMR
patient-derived xenograft (PDX) models (BT183) that were treated
using topotecan or saline as described previously27. Tumours were
subsequently frozen and pelleted using ultracentrifugation. DNA–RNA
hybrids were extracted as described previously using the same protocol
that is applied for cultured cells21. DNA was extracted using proteinase
K followed by phenol–chloroform ... (Show More)
|
Illumina HiSeq 2000 | 2 |
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