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@proceedings{60428,
author = {Adamová, Sabina and Ondroušková, Eva and Svatoň, Jan and Jarošová, Marie and Bohúnová, Michaela and Pál, Karol and Černovská, Karolína and Závacká, Kristýna and Porc, Jakub Paweł and Kotašková, Jana and Plevová, Karla and Stránská, Kamila},
booktitle = {EMBL Conference Cancer Genomics 2023, Heidelberg, Německo},
keywords = {Complex karyotype; chronic lymphocytic leukemia; long-read sequencing},
language = {eng},
title = {Application of long-read sequencing in chronic lymphocytic leukemia cases with complex karyotype.},
url = {https://www.embl.org/about/info/course-and-conference-office/events/can23-01/},
year = {2023}
}
TY - CONF
ID - 60428
AU - Adamová, Sabina - Ondroušková, Eva - Svatoň, Jan - Jarošová, Marie - Bohúnová, Michaela - Pál, Karol - Černovská, Karolína - Závacká, Kristýna - Porc, Jakub Paweł - Kotašková, Jana - Plevová, Karla - Stránská, Kamila
PY - 2023
TI - Application of long-read sequencing in chronic lymphocytic leukemia cases with complex karyotype.
KW - Complex karyotype
KW - chronic lymphocytic leukemia
KW - long-read sequencing
UR - https://www.embl.org/about/info/course-and-conference-office/events/can23-01/
N2 - 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.
ER -
ADAMOVÁ, Sabina, Eva ONDROUŠKOVÁ, Jan SVATOŇ, Marie JAROŠOVÁ, Michaela BOHÚNOVÁ, Karol PÁL, Karolína ČERNOVSKÁ, Kristýna ZÁVACKÁ, Jakub Paweł PORC, Jana KOTAŠKOVÁ, Karla PLEVOVÁ a Kamila STRÁNSKÁ. Application of long-read sequencing in chronic lymphocytic leukemia cases with complex karyotype. In \textit{EMBL Conference Cancer Genomics 2023, Heidelberg, Německo}. 2023.
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