| PubMed ID |
|
25497101 |
Publish Date |
|
2014 Dec |
| Journal |
|
Cell Reports |
Species |
|
Homo sapiens |
| Disease Type |
|
Congenital abnormality |
Technology |
|
Next Generation Sequencing |
| Case Number |
|
1 |
Raw Data |
|
EBI: PRJEB5063, PRJEB3030 |
| Title |
|
Genomic and functional overlap between somatic and germline chromosomal rearrangements |
| Authors |
|
van Heesch S, Simonis M, van Roosmalen MJ, Pillalamarri V, Brand H, Kuijk EW, de Luca KL, Lansu N, Braat AK, Menelaou A, Hao W, Korving J, Snijder S, van der Veken LT, Hochstenbach R, Knegt AC, Duran K, Renkens I, Alekozai N, Jager M, Vergult S, Menten B, de Bruijn E, Boymans S, Ippel E, van Binsbergen E, Talkowski ME, Lichtenbelt K, Cuppen E, Kloosterman WP |
| Affiliation |
|
Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, the Netherlands |
| Chromothripsis Definition |
|
Close-by breakpoints: >=2
Copy number states: 2
Fragments random joining: Yes |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| patient 1 |
| |
|
|
| |
Case ID: |
patient 1 |
| |
Chromosome: | 1,3,7,12 |
| |
Disease type: |
Congenital abnormality |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
SOLiD V4 |
| |
Affected Gene: |
Gene List |
| |
|
