| PubMed ID |
|
25938371 |
Publish Date |
|
2015 Jun |
| Journal |
|
Nature methods |
Species |
|
Homo sapiens |
| Disease Type |
|
Glioblastoma |
Technology |
|
Next Generation Sequencing |
| Title |
|
CONSERTING: integrating copy-number analysis with structural-variation detection |
| Authors |
|
Chen X, Gupta P, Wang J, Nakitandwe J, Roberts K, Dalton JD, Parker M, Patel S, Holmfeldt L, Payne D, Easton J, Ma J, Rusch M, Wu G, Patel A, Baker SJ, Dyer MA, Shurtleff S, Espy S, Pounds S, Downing JR, Ellison DW, Mullighan CG, Zhang J |
| Affiliation |
|
Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA |
| Chromothripsis Definition |
|
Close-by breakpoints: >=2
Copy number states: 2-3
Fragments random joining: NA |
| Abstract |
|
We developed Copy Number Segmentation by Regression Tree in Next Generation Sequencing (CONSERTING), an algorithm for detecting somatic copy-number alteration (CNA) using whole-genome sequencing (WGS) data. CONSERTING performs iterative analysis of segmentation on the basis of changes in read depth and the detection of localized structural variations, with high accuracy and sensitivity. Analysis of 43 cancer genomes from both pediatric and adult patients revealed novel oncogenic CNAs, complex rearrangements and subclonal CNAs missed by alternative approaches. |
| |
| Chromothripsis Cases |
| 06-0152-01A |
| |
|
|
| |
Case ID: |
06-0152-01A |
| |
Chromosome: | 7,12 |
| |
Disease type: |
Glioblastoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
|
| |
Affected Gene: |
Gene List |
| | | 06-0210-01A |
| |
|
|
| |
Case ID: |
06-0210-01A |
| |
Chromosome: | 1,2 |
| |
Disease type: |
Glioblastoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
|
| |
Affected Gene: |
Gene List |
| | | 06-0211-01A |
| |
|
|
| |
Case ID: |
06-0211-01A |
| |
Chromosome: | 4,7 |
| |
Disease type: |
Glioblastoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
|
| |
Affected Gene: |
Gene List |
| | | 06-0211-02A |
| |
|
|
| |
Case ID: |
06-0211-02A |
| |
Chromosome: | 4,7 |
| |
Disease type: |
Glioblastoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
|
| |
Affected Gene: |
Gene List |
| | | 06-0648-01A |
| |
|
|
| |
Case ID: |
06-0648-01A |
| |
Chromosome: | 12 |
| |
Disease type: |
Glioblastoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
|
| |
Affected Gene: |
Gene List |
| | | 14-1402-01A |
| |
|
|
| |
Case ID: |
14-1402-01A |
| |
Chromosome: | 7 |
| |
Disease type: |
Glioblastoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
|
| |
Affected Gene: |
Gene List |
| | | 14-1402-02A |
| |
|
|
| |
Case ID: |
14-1402-02A |
| |
Chromosome: | 7 |
| |
Disease type: |
Glioblastoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
|
| |
Affected Gene: |
Gene List |
| | | 19-5960-01A |
| |
|
|
| |
Case ID: |
19-5960-01A |
| |
Chromosome: | 4,12 |
| |
Disease type: |
Glioblastoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
|
| |
Affected Gene: |
Gene List |
| | | 27-1831-01A |
| |
|
|
| |
Case ID: |
27-1831-01A |
| |
Chromosome: | 7 |
| |
Disease type: |
Glioblastoma |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
|
| |
Affected Gene: |
Gene List |
| |
|
