| PubMed ID |
|
25662009 |
Publish Date |
|
2015 Feb |
| Journal |
|
Cell |
Species |
|
Homo sapiens |
| Disease Type |
|
WHIM syndrome |
Technology |
|
Next Generation Sequencing |
| Case Number |
|
1 |
Raw Data |
|
|
| Title |
|
Chromothriptic cure of WHIM syndrome |
| Authors |
|
McDermott DH, Gao JL, Liu Q, Siwicki M, Martens C, Jacobs P, Velez D, Yim E, Bryke CR, Hsu N, Dai Z, Marquesen MM, Stregevsky E, Kwatemaa N, Theobald N, Long Priel DA, Pittaluga S, Raffeld MA, Calvo KR, Maric I, Desmond R, Holmes KL, Kuhns DB, Balabanian |
| Affiliation |
|
Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA |
| Chromothripsis Definition |
|
Close-by breakpoints: 34
Copy number states: 2
Fragments random joining: Yes |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| WHIM-09 |
| |
|
|
| |
Case ID: |
WHIM-09 |
| |
Chromosome: | 2 |
| |
Disease type: |
WHIM syndrome |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina HiSeq 2000 |
| |
Affected Gene: |
Gene List |
| |
Download: |
Copy Number File Links File |
|  |  |
|
