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@proceedings{60351,
author = {Adamová, Sabina and Stránská, Kamila and Svatoň, Jan and Bohúnová, Michaela and Ondroušková, Eva and Jarošová, Marie and Závacká, Kristýna and Černovská, Karolína and Kotašková, Jana and Plevová, Karla},
booktitle = {XXVIIth Biochemistry congress},
keywords = {chromosomal abnormalities; In chronic lymphocytic leukemia; long-read sequencing},
language = {eng},
isbn = {978-80-8240-048-2},
title = {Application of long-read sequencing for detection of complex chromosomal rearrangements.},
url = {https://ssbmb2023.sk/},
year = {2023}
}
TY - CONF
ID - 60351
AU - Adamová, Sabina - Stránská, Kamila - Svatoň, Jan - Bohúnová, Michaela - Ondroušková, Eva - Jarošová, Marie - Závacká, Kristýna - Černovská, Karolína - Kotašková, Jana - Plevová, Karla
PY - 2023
TI - Application of long-read sequencing for detection of complex chromosomal rearrangements.
SN - 9788082400482
KW - chromosomal abnormalities
KW - In chronic lymphocytic leukemia
KW - long-read sequencing
UR - https://ssbmb2023.sk/
N2 - Complex karyotype (CK) typically involves various, often extensive numerical and structural chromosomal abnormalities. In chronic lymphocytic leukemia (CLL), it represents an established biomarker of adverse outcome. Common methods to detect CK include classical cytogenetics and genomic microarray; additional information may be obtained using next generation sequencing (NGS). However, all these approaches show low accuracy and sensitivity for detecting complex structural variants at the DNA sequence level. We aimed to explore the ability of long-read sequencing for the precise characterization of complex genomic variants in CLL patient samples.
ER -
ADAMOVÁ, Sabina, Kamila STRÁNSKÁ, Jan SVATOŇ, Michaela BOHÚNOVÁ, Eva ONDROUŠKOVÁ, Marie JAROŠOVÁ, Kristýna ZÁVACKÁ, Karolína ČERNOVSKÁ, Jana KOTAŠKOVÁ a Karla PLEVOVÁ. Application of long-read sequencing for detection of complex chromosomal rearrangements. In \textit{XXVIIth Biochemistry congress}. 2023. ISBN~978-80-8240-048-2.
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