Full metadata record
DC Field | Value | Language |
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dc.contributor.author | 정효빈 | - |
dc.date.accessioned | 2022-11-17T01:46:32Z | - |
dc.date.available | 2022-11-17T01:46:32Z | - |
dc.date.issued | 2019-12 | - |
dc.identifier.citation | NATURE BIOTECHNOLOGY, v. 38, no. 3, page. 343-354 | en_US |
dc.identifier.issn | 1087-0156; 1546-1696 | en_US |
dc.identifier.uri | https://www.nature.com/articles/s41587-019-0366-x | en_US |
dc.identifier.uri | https://repository.hanyang.ac.kr/handle/20.500.11754/176990 | - |
dc.description.abstract | Structural variation (SV), involving deletions, duplications, inversions and translocations of DNA segments, is a major source of genetic variability in somatic cells and can dysregulate cancer-related pathways. However, discovering somatic SVs in single cells has been challenging, with copy-number-neutral and complex variants typically escaping detection. Here we describe single-cell tri-channel processing (scTRIP), a computational framework that integrates read depth, template strand and haplotype phase to comprehensively discover SVs in individual cells. We surveyed SV landscapes of 565 single cells, including transformed epithelial cells and patient-derived leukemic samples, to discover abundant SV classes, including inversions, translocations and complex DNA rearrangements. Analysis of the leukemic samples revealed four times more somatic SVs than cytogenetic karyotyping, submicroscopic copy-number alterations, oncogenic copy-neutral rearrangements and a subclonal chromothripsis event. Advancing current methods, single-cell tri-channel processing can directly measure SV mutational processes in individual cells, such as breakage–fusion–bridge cycles, facilitating studies of clonal evolution, genetic mosaicism and SV formation mechanisms, which could improve disease classification for precision medicine. | en_US |
dc.description.sponsorship | We thank W. Huber, O. Stegle, F. Marass and P. Lansdorp for discussions and T. Christiansen for software documentation. We thank M. Paulsen (Flow Cytometry Core Facility) for assistance in sorting and C. Eckert for primary T-ALL samples for engraftment and N. Habermann for project support. J.O.K. acknowledges funding from European Research Council Starting (grant no. 336045) and Consolidator (grant no. 773026) grants and the National Institutes of Health (grant no. 3U41HG007497-04S1). Funding also came from the German Research Foundation (grant nos. 391137747 and 395192176) to T.M., the José Carreras Foundation (grant no. DJCLS 06R/2016) to J.O.K., A.E.K. and J.B.K., the Baden-Württemberg Stiftung (grant no. ID16) to A.E.K. and the Iten-Kohaut Stiftung to J.P.B. A.D.S. and H.Y. received postdoctoral fellowships through the Alexander von Humboldt Foundation. | en_US |
dc.language | en | en_US |
dc.publisher | NATURE PUBLISHING GROUP | en_US |
dc.title | Single-cell analysis of structural variations and complex rearrangements with tri-channel processing | en_US |
dc.type | Article | en_US |
dc.identifier.doi | 10.1038/s41587-019-0366-x | en_US |
dc.relation.journal | NATURE BIOTECHNOLOGY | - |
dc.contributor.googleauthor | Sanders, Ashley D. | - |
dc.contributor.googleauthor | Meiers, Sascha | - |
dc.contributor.googleauthor | Ghareghani, Maryam | - |
dc.contributor.googleauthor | Porubsky, David | - |
dc.contributor.googleauthor | Jeong, Hyobin | - |
dc.contributor.googleauthor | van Vliet, M. Alexandra C. C. | - |
dc.contributor.googleauthor | Rausch, Tobias | - |
dc.contributor.googleauthor | Richter-Pechanska, Paulina | - |
dc.contributor.googleauthor | Kunz, Joachim B. | - |
dc.contributor.googleauthor | Jenni, Silvia | - |
dc.relation.code | 2019001872 | - |
dc.sector.campus | S | - |
dc.sector.daehak | COLLEGE OF NATURAL SCIENCES[S] | - |
dc.sector.department | DEPARTMENT OF LIFE SCIENCE | - |
dc.identifier.pid | hyobinjeong | - |
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