Detailed Information on Publication Record
ADAMOVÁ, Sabina, Eva ONDROUŠKOVÁ, Jan SVATOŇ, Marie JAROŠOVÁ, Michaela BOHÚNOVÁ, Karol PÁL, Karolína ČERNOVSKÁ, Kristýna ZÁVACKÁ, Jakub Paweł PORC, Jana KOTAŠKOVÁ, Karla PLEVOVÁ and Kamila STRÁNSKÁ. Application of long-read sequencing in chronic lymphocytic leukemia cases with complex karyotype. In EMBL Conference Cancer Genomics 2023, Heidelberg, Německo. 2023. |
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Basic information | |
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Original name | Application of long-read sequencing in chronic lymphocytic leukemia cases with complex karyotype. |
Authors | ADAMOVÁ, Sabina, Eva ONDROUŠKOVÁ, Jan SVATOŇ, Marie JAROŠOVÁ, Michaela BOHÚNOVÁ, Karol PÁL, Karolína ČERNOVSKÁ, Kristýna ZÁVACKÁ, Jakub Paweł PORC, Jana KOTAŠKOVÁ, Karla PLEVOVÁ and Kamila STRÁNSKÁ. |
Edition | EMBL Conference Cancer Genomics 2023, Heidelberg, Německo, 2023. |
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Original language | English |
Type of outcome | Konferenční abstrakta |
Country of publisher | Germany |
Confidentiality degree | is not subject to a state or trade secret |
WWW | URL |
Organization | Středoevropský technologický institut – Repository – Repository |
Keywords in English | Complex karyotype; chronic lymphocytic leukemia; long-read sequencing |
Links | LM2023067, research and development project. LX22NPO5102, research and development project. MUNI/A/1224/2022, interní kód Repo. NU21-08-00237, research and development project. |
Changed by | Changed by: RNDr. Daniel Jakubík, učo 139797. Changed: 27/3/2024 04:12. |
Abstract |
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Complex karyotype (CK) typically involves various, often extensive numerical and structural chromosomal abnormalities. In chronic lymphocytic leukemia (CLL), it represents an established adverse prognostic marker. Common methods to detect CK include classical cytogenetics and genomic microarray, however, their resolution is limited. We aimed to explore the ability of long-read sequencing for the precise characterization of complex genomic variants in CLL patient samples. CK cases were identified and characterized using classical (IL-2/CpG-stimulated chromosomal banding) and molecular (24×Cyte Multicolor FISH, CytoScan HD Array) cytogenomics. For long-read sequencing, high molecular weight DNA was isolated using chloroform-isopropanol extraction, fragmented by needle shearing, and short DNA fragments were eliminated. The sequencing libraries were prepared using the Ligation Sequencing Kit (Oxford Nanopore Technologies) and sequenced on the MinION or PromethION platform. Reads were aligned to the hg38 human genome reference, and breakpoints were identified with the SVIM variant caller. |