Login
Register
Need Help?
ABOUT
ABOUT THE EGA
EGA
Privacy Notice
Security
Team
STATISTICS
Bibliography
Growth
Community
Archive
Distribution
Catalog
PROJECTS AND FUNDERS
Projects
Funders
GA4GH
Federated EGA
Beacon
DISCOVERY
CATALOGUE
Studies
Datasets
DACs
Synthetic Data
METADATA
Search Box
Public Metadata API
SUBMISSION
DATA
File preparation
Uploading files
METADATA
EGA Schema
Sequencing & Phenotype
Submitter Portal
Submitter Portal API
Array
Programmatic Submission XML
ACCESS
DATA ACCESS COMMITTEE
What is a DAC?
Best Practices
DAC Portal
Data Use Conditions
REQUEST DATA
How to request data?
Quality Control Reports
DOWNLOAD
Metadata
Files
PyEGA3
Live Outbox
Visualisation
FUSE Client
EGA QuickView
Tips on how to search
DACs
EGAC00001001002
Developmental & Stem Cell Biology
Contact Information
mdtaylor@sickkids.ca
Request Access
This DAC controls 4 datasets
Dataset ID
Description
Technology
Samples
EGAD00001004318
We used single-cell transcriptomics to study >60,000 cells from the developing murine cerebellum, and show that different molecular subgroups of childhood cerebellar tumors mirror the transcription of cells from distinct, temporally restricted cerebellar lineages.
Illumina HiSeq 2000
Illumina HiSeq 2500
Illumina HiSeq 4000
47
EGAD00001004347
We analyzed alternative splicing with Shh medulloblastoma. This dataset contains bam files of whole genome sequencing from 4 cases. Genomic DNA was isolated from both tumor and matched control specimens. We performed whole genome sequence on Illumina Hiseq.
Illumina HiSeq 2000
8
EGAD00001006305
To further understand the biology of Sonic hedgehog medulloblastoma and its molecular subtypes, we studied 250 human Shh-MB using strand-specific RNA sequencing. We identified novel alterations within the cAMP dependent pathway and found that 18% of tumors have genetic events that directly target the abundance and/or stability of MYCN. We also discovered an extensive network of fusions in focally amplified regions, and several loss-of-function fusions in tumor suppressor genes PTCH, SUFU and NCOR1. Molecular convergence on a core of specific genes by nucleotide variants, copy number aberrations, and gene fusions highlights key roles of specific pathways in the pathogenesis of Sonic hedgehog medulloblastoma.
Illumina HiSeq 2000
Illumina HiSeq 2500
82
EGAD00001008458
We used single-cell transcriptomics to study cells from the developing human cerebellum, and show that different molecular subgroups of medulloblastoma resemble distinct glutamatergic progenitors.
Illumina HiSeq 2000
Illumina HiSeq 2500
391