Detailed Information on Publication Record
2023
Solving complex karyotypes in leukemia samples using long-read sequencing.
STRÁNSKÁ, Kamila, Sabina ADAMOVÁ, Michaela BOHÚNOVÁ, Jan SVATOŇ, Karol PÁL et. al.Basic information
Original name
Solving complex karyotypes in leukemia samples using long-read sequencing.
Authors
STRÁNSKÁ, Kamila (203 Czech Republic, belonging to the institution), Sabina ADAMOVÁ (203 Czech Republic, belonging to the institution), Michaela BOHÚNOVÁ (703 Slovakia, belonging to the institution), Jan SVATOŇ (203 Czech Republic, belonging to the institution), Karol PÁL (703 Slovakia, belonging to the institution), Eva ONDROUŠKOVÁ (203 Czech Republic, belonging to the institution), Marie JAROŠOVÁ (203 Czech Republic, belonging to the institution), Kristýna ZÁVACKÁ (203 Czech Republic, belonging to the institution), Karolína ČERNOVSKÁ (203 Czech Republic, belonging to the institution), Jakub Paweł PORC (616 Poland, belonging to the institution), Filip PARDY (203 Czech Republic, belonging to the institution), Boris TICHÝ (203 Czech Republic, belonging to the institution), Šárka POSPÍŠILOVÁ (203 Czech Republic, guarantor, belonging to the institution), Jana KOTAŠKOVÁ (203 Czech Republic, belonging to the institution) and Karla PLEVOVÁ (203 Czech Republic, belonging to the institution)
Edition
European Human Genetics Conference (ESHG), Glasgow, United Kingdom, 2023
Other information
Language
English
Type of outcome
Konferenční abstrakt
Field of Study
30204 Oncology
Country of publisher
United Kingdom of Great Britain and Northern Ireland
Confidentiality degree
není předmětem státního či obchodního tajemství
References:
RIV identification code
RIV/00216224:14740/23:00132999
Organization unit
Central European Institute of Technology
Keywords in English
long-read sequencing; chronic lymphocytic leukemia;
Tags
Tags
International impact, Reviewed
Změněno: 25/3/2024 11:27, Mgr. Eva Dubská
Abstract
V originále
Highly complex karyotypes represent an adverse prognostic marker in leukemia samples. Their detailed study is substantive to identify specific genomic defects contributing to the deterioration of the disease course. Methods of classical and molecular cytogenomics are widely used in laboratory diagnostics to detect chromosomal aberrations, but their resolution is limited. We aim to employ Oxford Nanopore whole genome long-read sequencing to decipher cancer genome in difficult and ambiguous cases of chronic lymphocytic leukemia with complex karyotypes. Methods: Complex karyotype cases were identified and characterized using classical (IL-2/CpG-stimulated chromosomal banding) and molecular (24xCyte Multicolor FISH, CytoScan HD Array) cytogenomics. For long-read sequencing, high molecular weight DNA was isolated using chloroform-isopropanol extraction, fragmented using an injection needle, and short DNA fragments were eliminated (SRE XS Kit). The sequencing libraries were prepared using Ligation Sequencing Kit and sequenced on the MinION or PromethION sequencer. Sequences were aligned to the hg19 human genome reference, and structural variants were identified using the split read method, filtered, and annotated. Results/Conclusion: For each patient, we obtained sequencing data enabling 10× (MinION), or >20× (PromethION) average coverage of the genome. We performed a comprehensive comparison of long-read sequencing results with those of classical and molecular cytogenomics and assessed the benefits and shortcomings of long-read sequencing in deciphering the structure of genomic rearrangements in the tested chronic lymphocytic leukemia cases. Long-read sequencing provides more accurate characterization of breakpoints and majority of genome rearrangement events.
Links
| LM2023067, research and development project |
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| LX22NPO5102, research and development project |
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| MUNI/A/1224/2022, interní kód MU |
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| NU21-08-00237, research and development project |
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