Application of long-read sequencing for detection of complex chromosomal rearrangements.

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Authors	ADAMOVÁ Sabina STRÁNSKÁ Kamila SVATOŇ Jan BOHÚNOVÁ Michaela ONDROUŠKOVÁ Eva JAROŠOVÁ Marie ZÁVACKÁ Kristýna ČERNOVSKÁ Karolína KOTAŠKOVÁ Jana PLEVOVÁ Karla
Year of publication	2023
Type	Conference abstract
MU Faculty or unit	Central European Institute of Technology
Citation
Attached files	FEBS-Biochemistry_Congress_final_programme_abstract_book.pdf
Description	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.
Related projects:	Advanced sequencing methods for deciphering structural variants in cancer genome National institute for cancer research Nové přístupy ve výzkumu, diagnostice a terapii hematologických malignit X