Genomic

Dataset Information

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Sequencing of Medulloblastoma


ABSTRACT:

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.

PROVIDER: phs000409 | dbGaP |

SECONDARY ACCESSION(S): PRJNA75341PRJNA75339

REPOSITORIES: dbGaP

Dataset's files

Source:
Action DRS
GapExchange_phs000409.v1.p1.xml Xml
dbGaPEx2.1.5.xsd Other
Study_Report.phs000409.WGS_Medulloblastoma.v1.p1.MULTI.pdf Pdf
manifest_phs000409.WGS_Medulloblastoma.v1.p1.c1.GRU.pdf Pdf
datadict_v2.xsl Other
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