guest ::
| Home > Publications database > Functional analysis of structural variants in single cells using Strand-seq. > print |
| Home > Publications database > Functional analysis of structural variants in single cells using Strand-seq. > print |
| 001 | 182764 | ||
| 005 | 20240229145730.0 | ||
| 024 | 7 | _ | |a 10.1038/s41587-022-01551-4 |2 doi |
| 024 | 7 | _ | |a pmid:36424487 |2 pmid |
| 024 | 7 | _ | |a 0733-222X |2 ISSN |
| 024 | 7 | _ | |a 1087-0156 |2 ISSN |
| 024 | 7 | _ | |a 1546-1696 |2 ISSN |
| 024 | 7 | _ | |a 2331-3684 |2 ISSN |
| 024 | 7 | _ | |a altmetric:138912086 |2 altmetric |
| 037 | _ | _ | |a DKFZ-2022-02904 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 660 |
| 100 | 1 | _ | |a Jeong, Hyobin |0 0000-0002-1526-3343 |b 0 |
| 245 | _ | _ | |a Functional analysis of structural variants in single cells using Strand-seq. |
| 260 | _ | _ | |a New York, NY |c 2023 |b Springer Nature |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1686835510_10295 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 500 | _ | _ | |a #LA:B480# / 2023 Jun;41(6):832-844 |
| 520 | _ | _ | |a Somatic structural variants (SVs) are widespread in cancer, but their impact on disease evolution is understudied due to a lack of methods to directly characterize their functional consequences. We present a computational method, scNOVA, which uses Strand-seq to perform haplotype-aware integration of SV discovery and molecular phenotyping in single cells by using nucleosome occupancy to infer gene expression as a readout. Application to leukemias and cell lines identifies local effects of copy-balanced rearrangements on gene deregulation, and consequences of SVs on aberrant signaling pathways in subclones. We discovered distinct SV subclones with dysregulated Wnt signaling in a chronic lymphocytic leukemia patient. We further uncovered the consequences of subclonal chromothripsis in T cell acute lymphoblastic leukemia, which revealed c-Myb activation, enrichment of a primitive cell state and informed successful targeting of the subclone in cell culture, using a Notch inhibitor. By directly linking SVs to their functional effects, scNOVA enables systematic single-cell multiomic studies of structural variation in heterogeneous cell populations. |
| 536 | _ | _ | |a 312 - Funktionelle und strukturelle Genomforschung (POF4-312) |0 G:(DE-HGF)POF4-312 |c POF4-312 |f POF IV |x 0 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, , Journals: inrepo02.dkfz.de |
| 700 | 1 | _ | |a Grimes, Karen |0 0000-0002-4805-2366 |b 1 |
| 700 | 1 | _ | |a Rauwolf, Kerstin K |b 2 |
| 700 | 1 | _ | |a Bruch, Peter-Martin |0 0000-0002-9992-3109 |b 3 |
| 700 | 1 | _ | |a Rausch, Tobias |0 0000-0001-5773-5620 |b 4 |
| 700 | 1 | _ | |a Hasenfeld, Patrick |b 5 |
| 700 | 1 | _ | |a Benito, Eva |b 6 |
| 700 | 1 | _ | |a Roider, Tobias |0 0000-0002-6973-3531 |b 7 |
| 700 | 1 | _ | |a Sabarinathan, Radhakrishnan |b 8 |
| 700 | 1 | _ | |a Porubsky, David |0 0000-0001-8414-8966 |b 9 |
| 700 | 1 | _ | |a Herbst, Sophie A |0 0000-0001-8502-0366 |b 10 |
| 700 | 1 | _ | |a Erarslan-Uysal, Büşra |b 11 |
| 700 | 1 | _ | |a Jann, Johann-Christoph |0 0000-0003-2200-0151 |b 12 |
| 700 | 1 | _ | |a Marschall, Tobias |0 0000-0002-9376-1030 |b 13 |
| 700 | 1 | _ | |a Nowak, Daniel |b 14 |
| 700 | 1 | _ | |a Bourquin, Jean-Pierre |b 15 |
| 700 | 1 | _ | |a Kulozik, Andreas E |0 0000-0003-1953-0848 |b 16 |
| 700 | 1 | _ | |a Dietrich, Sascha |0 P:(DE-He78)6333b389d0abc96ef7f2f6e049a8f8c4 |b 17 |u dkfz |
| 700 | 1 | _ | |a Bornhauser, Beat |0 0000-0003-2890-3191 |b 18 |
| 700 | 1 | _ | |a Sanders, Ashley D |0 0000-0003-3945-0677 |b 19 |
| 700 | 1 | _ | |a Korbel, Jan |0 P:(DE-He78)372b77c2acf8604690a6a325a4e89287 |b 20 |e Last author |u dkfz |
| 773 | _ | _ | |a 10.1038/s41587-022-01551-4 |0 PERI:(DE-600)1494943-X |n 6 |p 832-844 |t Nature biotechnology |v 41 |y 2023 |x 0733-222X |
| 909 | C | O | |p VDB |o oai:inrepo02.dkfz.de:182764 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 17 |6 P:(DE-He78)6333b389d0abc96ef7f2f6e049a8f8c4 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 20 |6 P:(DE-He78)372b77c2acf8604690a6a325a4e89287 |
| 913 | 1 | _ | |a DE-HGF |b Gesundheit |l Krebsforschung |1 G:(DE-HGF)POF4-310 |0 G:(DE-HGF)POF4-312 |3 G:(DE-HGF)POF4 |2 G:(DE-HGF)POF4-300 |4 G:(DE-HGF)POF |v Funktionelle und strukturelle Genomforschung |x 0 |
| 914 | 1 | _ | |y 2022 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0160 |2 StatID |b Essential Science Indicators |d 2021-01-27 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1190 |2 StatID |b Biological Abstracts |d 2021-01-27 |
| 915 | _ | _ | |a WoS |0 StatID:(DE-HGF)0113 |2 StatID |b Science Citation Index Expanded |d 2021-01-27 |
| 915 | _ | _ | |a Nationallizenz |0 StatID:(DE-HGF)0420 |2 StatID |d 2023-10-21 |w ger |
| 915 | _ | _ | |a JCR |0 StatID:(DE-HGF)0100 |2 StatID |b NAT BIOTECHNOL : 2022 |d 2023-10-21 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0200 |2 StatID |b SCOPUS |d 2023-10-21 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0300 |2 StatID |b Medline |d 2023-10-21 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0600 |2 StatID |b Ebsco Academic Search |d 2023-10-21 |
| 915 | _ | _ | |a Peer Review |0 StatID:(DE-HGF)0030 |2 StatID |b ASC |d 2023-10-21 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0199 |2 StatID |b Clarivate Analytics Master Journal List |d 2023-10-21 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1050 |2 StatID |b BIOSIS Previews |d 2023-10-21 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0150 |2 StatID |b Web of Science Core Collection |d 2023-10-21 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1030 |2 StatID |b Current Contents - Life Sciences |d 2023-10-21 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1060 |2 StatID |b Current Contents - Agriculture, Biology and Environmental Sciences |d 2023-10-21 |
| 915 | _ | _ | |a IF >= 40 |0 StatID:(DE-HGF)9940 |2 StatID |b NAT BIOTECHNOL : 2022 |d 2023-10-21 |
| 920 | 2 | _ | |0 I:(DE-He78)B480-20160331 |k B480 |l Mechanismen der genetischen Variation und Datenwissenschaft |x 0 |
| 920 | 1 | _ | |0 I:(DE-He78)B480-20160331 |k B480 |l Mechanismen der genetischen Variation und Datenwissenschaft |x 0 |
| 920 | 1 | _ | |0 I:(DE-He78)B340-20160331 |k B340 |l Translationale Medizinische Onkologie |x 1 |
| 980 | _ | _ | |a journal |
| 980 | _ | _ | |a VDB |
| 980 | _ | _ | |a I:(DE-He78)B480-20160331 |
| 980 | _ | _ | |a I:(DE-He78)B340-20160331 |
| 980 | _ | _ | |a UNRESTRICTED |
| Library | Collection | CLSMajor | CLSMinor | Language | Author |
|---|