| PubMed ID |
|
28260531 |
Publish Date |
|
2017 Mar |
| Journal |
|
Genome Biol |
Species |
|
Homo sapiens |
| Disease Type |
|
Autism spectrum disorder |
Technology |
|
Next Generation Sequencing |
| Case Number |
|
3 |
Raw Data |
|
|
| Title |
|
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome |
| Authors |
|
Collins RL, Brand H, Redin CE, Hanscom C, Antolik C, Stone MR, Glessner JT, Mason T, Pregno G, Dorrani N, Mandrile G, Giachino D, Perrin D, Walsh C, Cipicchio M, Costello M, Stortchevoi A, An JY, Currall BB, Seabra CM, Ragavendran A, Margolin L, Martinez-Agosto JA, Lucente D, Levy B, Sanders SJ, Wapner RJ, Quintero-Rivera F, Kloosterman W, Talkowski ME |
| Affiliation |
|
Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, and Department of Neurology, Massachusetts General Hospital, Boston, MA, 02114, USA |
| Chromothripsis Definition |
|
Close-by breakpoints: >=9
Copy number states: 2
Fragments random joining: Yes |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| TL010 |
| |
|
|
| |
Case ID: |
TL010 |
| |
Chromosome: | 1,12,14,15 |
| |
Disease type: |
Autism spectrum disorder |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina HiSeq 2000 /2500 |
| |
Affected Gene: |
Gene List |
| |
Download: |
Copy Number File |
| |  | | UTR22 |
| |
|
|
| |
Case ID: |
UTR22 |
| |
Chromosome: | 2,7,8,9 |
| |
Disease type: |
Autism spectrum disorder |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina HiSeq 2000 /2500 |
| |
Affected Gene: |
Gene List |
| |
Download: |
Copy Number File |
| |  | | TL009 |
| |
|
|
| |
Case ID: |
TL009 |
| |
Chromosome: | 19 |
| |
Disease type: |
Autism spectrum disorder |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina HiSeq 2000 /2500 |
| |
Affected Gene: |
Gene List |
| |
Download: |
Copy Number File |
|  |  |
|
