Leveraging a spectrum of cytogenomics methods for profiling complex karyotypes in chronic lymphocytic leukemia

• Authors: ČERNOVSKÁ Karolína; PEŇÁZOVÁ Sabina; STRÁNSKÁ Kamila; PORC Jakub Paweł; SKALÁKOVÁ Patricie; ONDROUŠKOVÁ Eva; RAUSCH Tobias; SVATOŇ Jan; TAUŠOVÁ Kristýna; KAZDOVÁ Natálie; PÁL Karol; HYNŠT Jakub; BENES Vladimir; JAROŠOVÁ Marie; POSPÍŠILOVÁ Šárka; KOTAŠKOVÁ Jana; PLEVOVÁ Karla
• Year of publication: 2026
• Type: Peer-reviewed scientific article
• Magazine / Source: Human Genomics
• MU Faculty or unit: Faculty of Medicine
• web: https://link.springer.com/article/10.1186/s40246-026-00957-4
• Doi: https://doi.org/10.1186/s40246-026-00957-4

Attached files

• Cernovska_et_al_Leveraging_spectrum_Hum_Genomics_206.pdf

• Description: A highly complex karyotype (high-CK) is a key biomarker of poor prognosis in chronic lymphocytic leukemia (CLL). While conventional methods lack the resolution to fully characterize complex structural variants (SVs), emerging technologies such as short-read WGS (sr-WGS), nanopore sequencing (ONT), optical genome mapping (OGM), and chromatin conformation capture (Micro-C) offer powerful tools for high-resolution SVs analysis, illuminating the genomic architecture underlying CLL.