دورية أكاديمية
Diverse mechanisms of somatic structural variations in human cancer genomes.
| العنوان: | Diverse mechanisms of somatic structural variations in human cancer genomes. |
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| المؤلفون: | Yang, Lixing, Luquette, Lovelace J, Gehlenborg, Nils, Xi, Ruibin, Haseley, Psalm S, Hsieh, Chih-Heng, Zhang, Chengsheng, Ren, Xiaojia, Protopopov, Alexei, Chin, Lynda, Kucherlapati, Raju, Lee, Charles, Park, Peter J |
| المصدر: | Faculty Research 2013 |
| بيانات النشر: | The Mouseion at the JAXlibrary |
| سنة النشر: | 2013 |
| المجموعة: | The Jackson Laboratory: The Mouseion at the JAXlibrary |
| مصطلحات موضوعية: | Algorithms, Chromosome Aberrations, Genome, Human, Genome-Wide Association Study, Glioblastoma, Humans, Mutation, Neoplasms, Life Sciences, Medicine and Health Sciences |
| الوصف: | Identification of somatic rearrangements in cancer genomes has accelerated through analysis of high-throughput sequencing data. However, characterization of complex structural alterations and their underlying mechanisms remains inadequate. Here, applying an algorithm to predict structural variations from short reads, we report a comprehensive catalog of somatic structural variations and the mechanisms generating them, using high-coverage whole-genome sequencing data from 140 patients across ten tumor types. We characterize the relative contributions of different types of rearrangements and their mutational mechanisms, find that ~20% of the somatic deletions are complex deletions formed by replication errors, and describe the differences between the mutational mechanisms in somatic and germline alterations. Importantly, we provide detailed reconstructions of the events responsible for loss of CDKN2A/B and gain of EGFR in glioblastoma, revealing that these alterations can result from multiple mechanisms even in a single genome and that both DNA double-strand breaks and replication errors drive somatic rearrangements. Cell 2013 May 9; 153(4):919-29. |
| نوع الوثيقة: | text |
| اللغة: | unknown |
| العلاقة: | https://mouseion.jax.org/stfb2013/141Test; http://dx.doi.org/10.1016/j.cell.2013.04.010Test |
| DOI: | 10.1016/j.cell.2013.04.010 |
| الإتاحة: | https://doi.org/10.1016/j.cell.2013.04.010Test https://mouseion.jax.org/stfb2013/141Test |
| رقم الانضمام: | edsbas.2F893811 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.cell.2013.04.010 |
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