| PubMed ID |
|
22265399 |
Publish Date |
|
2012 Jan |
| Journal |
|
Cell |
Species |
|
|
| Disease Type |
|
|
Technology |
|
|
| Title |
|
Chromothripsis and Human Disease: Piecing Together the Shattering Process |
| Authors |
|
Maher CA, Wilson RK |
| Affiliation |
|
The Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, USA |
| Chromothripsis Definition |
|
Close-by breakpoints: NA
Copy number states: NA
Fragments random joining: NA |
| Abstract |
|
The unprecedented resolution of high-throughput genomics has enabled the recent discovery of a phenomenon by which specific regions of the genome are shattered and then stitched together via a single devastating event, referred to as chromothripsis. Potential mechanisms governing this process are now emerging, with implications for our understanding of the role of genomic rearrangements in development and disease. |
|
