Application of long-read sequencing in chronic lymphocytic leukemia cases with complex karyotype.

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14740%2F23%3A00132769" target="_blank" >RIV/00216224:14740/23:00132769 - isvavai.cz</a>
Result on the web
<a href="https://www.embl.org/about/info/course-and-conference-office/events/can23-01/" target="_blank" >https://www.embl.org/about/info/course-and-conference-office/events/can23-01/</a>
DOI - Digital Object Identifier
—

Result language
angličtina
Original language name
Application of long-read sequencing in chronic lymphocytic leukemia cases with complex karyotype.
Original language description
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.
Czech name
—
Czech description
—

Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Similar results(10)