Project: SRP008292
Organism: Homo sapiens
Study Title: St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project(PCGP): Whole Genome Sequencing of Childhood Medulloblastoma
Center Name: ST. JUDE CHILDREN'S RESEARCH HOSPITAL
Description: Medulloblastoma is a heterogenous disease made up of at least four distinct subtypes of disease which appear to exploit and disrupt naturally occurring developmental pathways of cellular growth and hindbrain development. To better understand the driver mutations of this disease, we performed whole genome sequencing of 37 medulloblastomas and the corresponding normal DNA of the 37 affected children treated at St. Jude Children's Research Hospital. We have found several novel mutations which appear subtype specific. These mutations were checked for frequency in a separate tumor cohort of 56 children with medulloblastoma, also treated on the St. Jude Medulloblastoma 2003 trial, and were tested in several animal models of medulloblastoma for proof of oncogenic potential.
Cell Type: Medulloblastoma
Median Sequencing Depth: 39.577478
Publication: Whole-genome single-cell copy number profiling from formalin-fixed paraffin-embedded samples
DOI: 10.1038/nm.4279