Vysokokapacitní cytogenomické metody pro analýzu komplexního karyotypu u chronické lymfocytární leukémie
| Title in English | High-Throughput Cytogenomic Methods for Complex Karyotype Analysis in Chronic Lymphocytic Leukemia |
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| Year of publication | 2024 |
| Type | Conference abstract |
| MU Faculty or unit | |
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| Description | In patients with chronic lymphocytic leukemia (CLL) with an unfavorable prognosis, a complex karyotype (CK) is frequently observed, which may include both numerical and structural variants (SVs). Modern high-throughput technologies, such as long-read sequencing (LRS), chromatin conformation analysis (Hi-C), and optical genome mapping (OGM), provide high-resolution genomic analysis. Therefore, we aimed to evaluate their contribution to CK characterization in CLL. CK was identified during routine examination using chromosomal banding (CpG/IL-2 stimulation) and mFISH. Additional testing was performed using genomic microarrays (CytoScan HD, Affymetrix). High-molecular-weight DNA was sequenced on the PromethION platform (Oxford Nanopore Technologies); data were analyzed using the Delly tool and subsequently filtered against a reference dataset of 1000 LRS genomes. For analyzing SVs detected by OGM (Bionano Genomics), the Rare Variant Analysis approach was applied. To detect aberrations using the Hi-C method (Micro-C, Dovetail Genomics), EagleC and NeoLoopFinder tools were used. |
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