Přehled o publikaci
2025
Systematic Assessment of the Applicability of Comprehensive Genomic Testing Towards Better Cancer Clinical Diagnostics in the Czech Republic
PLEVOVÁ, Karla; Sabina PEŇÁZOVÁ; Patricie SKALÁKOVÁ; Jakub Paweł PORC; Hana SVOZILOVÁ et al.Basic information
Original name
Systematic Assessment of the Applicability of Comprehensive Genomic Testing Towards Better Cancer Clinical Diagnostics in the Czech Republic
Authors
PLEVOVÁ, Karla; Sabina PEŇÁZOVÁ; Patricie SKALÁKOVÁ; Jakub Paweł PORC; Hana SVOZILOVÁ; Karolína ČERNOVSKÁ; Kamila STRÁNSKÁ; Eva ONDROUŠKOVÁ; Marie JAROŠOVÁ; Michael DOUBEK; Jana KOTAŠKOVÁ; Magdalena UVIROVA; Zuzana ZEMANOVA and Šárka POSPÍŠILOVÁ
Edition
Clinical Cancer Genomics Conference, Amsterodam, 2025
Other information
Language
English
Type of outcome
Konferenční abstrakta
Country of publisher
Netherlands
Confidentiality degree
is not subject to a state or trade secret
References:
Marked to be transferred to RIV
No
Organization
Středoevropský technologický institut – Repository – Repository
Keywords in English
comprehensive genomic testing; whole-genome sequencing (WGS); chronic lymphocytic leukemia; clinical cancer diagnostics
Links
EH23_020/0008555, research and development project.
Changed: 11/2/2026 00:50, RNDr. Daniel Jakubík
Abstract
In the original language
gt;20% mitoses) but repeatedly failed to detect specific rearrangements, such as dicentric chromosomes and derived chromosomes involving more than two chromosomes. For this purpose, the analysis against the T2T reference would be beneficial. Overall, we uncovered significantly greater SV complexity in all ten cases by combining short-read WGS, ONT, and OGM than identified by low-throughput methods. These pilot data will serve to adjust the analytical approaches for further larger patient cohorts.
