| PubMed ID |
|
24509483 |
Publish Date |
|
2014 Jan |
| Journal |
|
Oncotarget |
Species |
|
Homo sapiens |
| Disease Type |
|
Retinoblastoma |
Technology |
|
Next Generation Sequencing |
| Case Number |
|
3 |
Raw Data |
|
|
| Title |
|
RB1 gene inactivation by chromothripsis in human retinoblastoma. |
| Authors |
|
McEvoy J, Nagahawatte P, Finkelstein D, Richards-Yutz J, Valentine M, Ma J, Mullighan C, Song G, Chen X, Wilson M, Brennan R, Pounds S, Becksfort J, Huether R, Lu C, Fulton RS, Fulton LL, Hong X, Dooling DJ, Ochoa K, Mardis ER, Wilson RK, Easton J, Zhang |
| Affiliation |
|
Departments of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN, USA |
| Chromothripsis Definition |
|
Close-by breakpoints: >=5
Copy number states: 2-3
Fragments random joining: NA |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| SJRB031 |
| |
|
|
| |
Case ID: |
SJRB031 |
| |
Chromosome: | 13 |
| |
Disease type: |
Retinoblastoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina sequencing |
| |
Affected Gene: |
Gene List |
| | | SJRB039 |
| |
|
|
| |
Case ID: |
SJRB039 |
| |
Chromosome: | 13 |
| |
Disease type: |
Retinoblastoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina sequencing |
| |
Affected Gene: |
Gene List |
| | | SJRB051 |
| |
|
|
| |
Case ID: |
SJRB051 |
| |
Chromosome: | 13 |
| |
Disease type: |
Retinoblastoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina sequencing |
| |
|
