| PubMed ID |
|
23738515 |
Publish Date |
|
2013 Jun |
| Journal |
|
N Engl J Med |
Species |
|
Homo sapiens |
| Disease Type |
|
Uterine leiomyoma |
Technology |
|
Next Generation Sequencing |
| Case Number |
|
6 |
Raw Data |
|
EBI: ERP004006 |
| Title |
|
Characterization of Uterine Leiomyomas by Whole-Genome Sequencing |
| Authors |
|
Mehine M, Kaasinen E, Makinen N, Katainen R, Kampjarvi K, Pitkanen E, Heinonen HR, Butzow R, Kilpivaara O, Kuosmanen A, Ristolainen H, Gentile M, Sjoberg J, Vahteristo P, Aaltonen LA |
| Affiliation |
|
Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland |
| Chromothripsis Definition |
|
Close-by breakpoints: >=20
Copy number states: 1-2
Fragments random joining: Yes |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| MY10m3 |
| |
|
|
| |
Case ID: |
MY10m3 |
| |
Chromosome: | 1,17 |
| |
Disease type: |
Uterine leiomyoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina + Complete Genomics |
| |
Affected Gene: |
Gene List |
| | | MY23m4 |
| |
|
|
| |
Case ID: |
MY23m4 |
| |
Chromosome: | 2,5,7,22,X |
| |
Disease type: |
Uterine leiomyoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina + Complete Genomics |
| |
Affected Gene: |
Gene List |
| | | MY46m1 |
| |
|
|
| |
Case ID: |
MY46m1 |
| |
Chromosome: | 1,4,22 |
| |
Disease type: |
Uterine leiomyoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina + Complete Genomics |
| | | MY47m1 |
| |
|
|
| |
Case ID: |
MY47m1 |
| |
Chromosome: | 1,2,11,15,X |
| |
Disease type: |
Uterine leiomyoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina + Complete Genomics |
| |
Affected Gene: |
Gene List |
| |
Download: |
Copy Number File Links File |
|  |  | | MY64m1 |
| |
|
|
| |
Case ID: |
MY64m1 |
| |
Chromosome: | 6,8,12,14 |
| |
Disease type: |
Uterine leiomyoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina + Complete Genomics |
| |
Affected Gene: |
Gene List |
| |
Download: |
Links File |
| |  | | MY18m3 |
| |
|
|
| |
Case ID: |
MY18m3 |
| |
Chromosome: | 1,5,14 |
| |
Disease type: |
Uterine leiomyoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina + Complete Genomics |
| |
Affected Gene: |
Gene List |
| |
Download: |
Copy Number File Links File |
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