| PubMed ID |
|
22265402 |
Publish Date |
|
2012 Jan |
| Journal |
|
Cell |
Species |
|
Homo sapiens |
| Disease Type |
|
Sonic-Hedgehog medulloblastoma |
Technology |
|
Next Generation Sequencing |
| Case Number |
|
4 |
Raw Data |
|
GEO: GSE14437, GSE32462, GSE19101, GSE23452, GSE34323, GSE34258 EBI: EGAS00001000085 |
| Title |
|
Genome Sequencing of Pediatric Medulloblastoma Links Catastrophic DNA Rearrangements with TP53 Mutations |
| Authors |
|
Rausch T, Jones DT, Zapatka M, Stutz AM, Zichner T, Weischenfeldt J, Jager N, Remke M, Shih D, Northcott PA, Pfaff E, Tica J, Wang Q, Massimi L, Witt H, Bender S, Pleier S, Cin H, Hawkins C, Beck C, von Deimling A, Hans V, Brors B, Eils R, Scheurlen W, Bl |
| Affiliation |
|
European Molecular Biology Laboratory, Meyerhofstr. 1, 69117 Heidelberg, Germany |
| Chromothripsis Definition |
|
Close-by breakpoints: >=20
Copy number states: 2-3
Fragments random joining: Yes |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| LFS-MB1 |
| |
|
|
| |
Case ID: |
LFS-MB1 |
| |
Chromosome: | 3,4,14 |
| |
Disease type: |
Sonic-Hedgehog medulloblastoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina HiSeq 2000 |
| |
Affected Gene: |
Gene List |
| |
Download: |
Copy Number File Links File |
|  |  | | LFS-MB2 |
| |
|
|
| |
Case ID: |
LFS-MB2 |
| |
Chromosome: | 3,8,17,X |
| |
Disease type: |
Sonic-Hedgehog medulloblastoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina HiSeq 2000 |
| |
Affected Gene: |
Gene List |
| |
Download: |
Copy Number File Links File |
|  |  | | LFS-MB3 |
| |
|
|
| |
Case ID: |
LFS-MB3 |
| |
Chromosome: | 3,15 |
| |
Disease type: |
Sonic-Hedgehog medulloblastoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina HiSeq 2000 |
| |
Affected Gene: |
Gene List |
| |
Download: |
Copy Number File Links File |
|  |  | | LFS-MB4 |
| |
|
|
| |
Case ID: |
LFS-MB4 |
| |
Chromosome: | 2,12 |
| |
Disease type: |
Sonic-Hedgehog medulloblastoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina HiSeq 2000 |
| |
Affected Gene: |
Gene List |
| |
Download: |
Copy Number File Links File |
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