| PubMed ID |
|
22388000 |
Publish Date |
|
2012 Mar |
| Journal |
|
Nat Genet |
Species |
|
Homo sapiens |
| Disease Type |
|
Germline |
Technology |
|
Next Generation Sequencing |
| Case Number |
|
2 |
Raw Data |
|
|
| Title |
|
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. |
| Authors |
|
Chiang C, Jacobsen JC, Ernst C, Hanscom C, Heilbut A, Blumenthal I, Mills RE, Kirby A, Lindgren AM, Rudiger SR, McLaughlan CJ, Bawden CS, Reid SJ, Faull RL, Snell RG, Hall IM, Shen Y, Ohsumi TK, Borowsky ML, Daly MJ, Lee C, Morton CC, MacDonald ME, Gusella JF, Talkowski ME |
| Affiliation |
|
Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA |
| Chromothripsis Definition |
|
Close-by breakpoints: >=4
Copy number states: 1
Fragments random joining: Yes |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| BSID42 |
| |
|
|
| |
Case ID: |
BSID42 |
| |
Chromosome: | 5,X |
| |
Disease type: |
Germline |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina HiSeq 2000 |
| |
Download: |
Links File |
| |  | | BSID43 |
| |
|
|
| |
Case ID: |
BSID43 |
| |
Chromosome: | 3,5,7 |
| |
Disease type: |
Germline |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina HiSeq 2000 |
| |
Download: |
Links File |
| |  |
|
