Study

Genomic Landscape of Pediatric Myelodysplastic Syndromes

Study ID Alternative Stable ID Type
EGAS00001002202 Other

Study Description

Pediatric myelodysplastic syndromes (MDS) are a rare disease and unlike their adult counterpart, very little is known about their genomic landscape. We characterized a cohort of patients from a single institution by whole exome sequencing, as well as a subset of patients by whole genome sequencing, RNA-sequencing and targeted deep sequencing. We found a spectrum of mutations, both somatic and germline, that are distinct from those observed in adult MDS. In turn, we observed mutations commonly observed in other pediatric myeloid tumors.

Study Datasets 4 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
EGAD00001003155
WES files for SJMDS paper titled 'Genomic Landscape of Pediatric Myelodysplastic Syndromes'
Illumina HiSeq 2000 6
EGAD00001003156
WGS files for SJMDS paper titled 'Genomic Landscape of Pediatric Myelodysplastic Syndromes'
Illumina HiSeq 2000 4
EGAD00001003781
Paired whole exome sequencing for 32 primary MDS, 14 MDS/MPN, and 8 AML-MRC cases (total = 54). Normal comparator genomic DNA was extracted from lymphocytes purified by flow cytometry. Bulk myeloid cells were used as a source of tumor gDNA. Files uploaded are mapped BAM files.
Illumina HiSeq 2000 94
EGAD00001003782
When available (25 primary MDS, 12 MDS/MPN, and 6 AML-MRC cases), high quality RNA (stranded-total) was submitted for RNA-seq. RNA was extracted from bulk myeloid cells which was used as the tumor population. Files uploaded are mapped BAM files.
Illumina HiSeq 2000 43

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