Long-read sequencing shows complex structural variants in tumor-stage mycosis fungoides
Hain C, Stadler R, Kalinowski J (2023)
bioRxiv.
Preprint
| Veröffentlicht | Englisch
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Autor*in
Hain, CarstenUniBi;
Stadler, Rudolf;
Kalinowski, JörnUniBi
Abstract / Bemerkung
**Abstract**
Mycosis fungoides is the most common cutaneous T-cell lymphoma. Recurrent copy-number variations are the main unifying mutations in this disease, but to date, a comprehensive analysis of occurrence and type of structural variants responsible for these copy-number variations remains elusive. In this study, we used Oxford Nanopore Technologies long-read sequencing to elucidate the highly rearranged genomic landscape of five mycosis fungoides samples. We show the occurrence of multiple classes of simple and complex SV and analyze the extend of tumor suppressor gene deletion by complex SVs. Furthermore, leveraging long-read data, we inferred the genomic structure of a chromothripsis event. Our findings highlight the potential of long-read sequencing as a powerful tool for comprehensive genomic analysis in mycosis fungoides.
Mycosis fungoides is the most common cutaneous T-cell lymphoma. Recurrent copy-number variations are the main unifying mutations in this disease, but to date, a comprehensive analysis of occurrence and type of structural variants responsible for these copy-number variations remains elusive. In this study, we used Oxford Nanopore Technologies long-read sequencing to elucidate the highly rearranged genomic landscape of five mycosis fungoides samples. We show the occurrence of multiple classes of simple and complex SV and analyze the extend of tumor suppressor gene deletion by complex SVs. Furthermore, leveraging long-read data, we inferred the genomic structure of a chromothripsis event. Our findings highlight the potential of long-read sequencing as a powerful tool for comprehensive genomic analysis in mycosis fungoides.
Erscheinungsjahr
2023
Zeitschriftentitel
bioRxiv
Page URI
https://pub.uni-bielefeld.de/record/2987224
Zitieren
Hain C, Stadler R, Kalinowski J. Long-read sequencing shows complex structural variants in tumor-stage mycosis fungoides. bioRxiv. 2023.
Hain, C., Stadler, R., & Kalinowski, J. (2023). Long-read sequencing shows complex structural variants in tumor-stage mycosis fungoides. bioRxiv. https://doi.org/10.1101/2023.07.03.547529
Hain, Carsten, Stadler, Rudolf, and Kalinowski, Jörn. 2023. “Long-read sequencing shows complex structural variants in tumor-stage mycosis fungoides”. bioRxiv.
Hain, C., Stadler, R., and Kalinowski, J. (2023). Long-read sequencing shows complex structural variants in tumor-stage mycosis fungoides. bioRxiv.
Hain, C., Stadler, R., & Kalinowski, J., 2023. Long-read sequencing shows complex structural variants in tumor-stage mycosis fungoides. bioRxiv.
C. Hain, R. Stadler, and J. Kalinowski, “Long-read sequencing shows complex structural variants in tumor-stage mycosis fungoides”, bioRxiv, 2023.
Hain, C., Stadler, R., Kalinowski, J.: Long-read sequencing shows complex structural variants in tumor-stage mycosis fungoides. bioRxiv. (2023).
Hain, Carsten, Stadler, Rudolf, and Kalinowski, Jörn. “Long-read sequencing shows complex structural variants in tumor-stage mycosis fungoides”. bioRxiv (2023).
Material in PUB:
Dissertation, die diesen PUB Eintrag enthält
Exploring the genetic landscape in cutaneous T-cell lymphoma with short- and long-read sequencing
Hain C (2024)
Bielefeld: Universität Bielefeld.
Hain C (2024)
Bielefeld: Universität Bielefeld.
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Preprint: 10.1101/2023.07.03.547529
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