Systematic Assessment of the Applicability of Comprehensive
Genomic Testing Towards Better Cancer Clinical Diagnostics in
the Czech Republic

Přehled o publikaci

a 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.

Základní údaje

Originální název

Systematic Assessment of the Applicability of Comprehensive Genomic Testing Towards Better Cancer Clinical Diagnostics in the Czech Republic

Autoři

Vydání

Clinical Cancer Genomics Conference, Amsterodam, 2025

Další údaje

Jazyk

angličtina

Typ výsledku

Konferenční abstrakta

Stát vydavatele

Nizozemské království

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Označené pro přenos do RIV

Organizace

Středoevropský technologický institut – Masarykova univerzita – Repozitář

Klíčová slova anglicky

comprehensive genomic testing; whole-genome sequencing (WGS); chronic lymphocytic leukemia; clinical cancer diagnostics

Návaznosti

EH23_020/0008555, projekt VaV.

Změněno: 11. 2. 2026 00:50, RNDr. Daniel Jakubík

Anotace

V originále

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.

Přiložené soubory

https://is.muni.cz/publication/2553879/01_Abstract_book.pdf

Citovat

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 a Šárka POSPÍŠILOVÁ. Systematic Assessment of the Applicability of Comprehensive Genomic Testing Towards Better Cancer Clinical Diagnostics in the Czech Republic. In Clinical Cancer Genomics Conference, Amsterodam. 2025.

@proceedings{99809,
   author = {Plevová, Karla and Peňázová, Sabina and Skaláková, Patricie and Porc, Jakub Paweł and Svozilová, Hana and Černovská, Karolína and Stránská, Kamila and Ondroušková, Eva and Jarošová, Marie and Doubek, Michael and Kotašková, Jana and Uvirova, Magdalena and Zemanova, Zuzana and Pospíšilová, Šárka},
   booktitle = {Clinical Cancer Genomics Conference, Amsterodam},
   keywords = {comprehensive genomic testing; whole-genome sequencing (WGS); chronic lymphocytic leukemia; clinical cancer diagnostics},
   language = {eng},
   title = {Systematic Assessment of the Applicability of Comprehensive Genomic Testing Towards Better Cancer Clinical Diagnostics in the Czech Republic},
   url = {https://www.ccg2025.eu/},
   year = {2025}
}

TY  - CONF
ID  - 99809
AU  - Plevová, Karla - Peňázová, Sabina - Skaláková, Patricie - Porc, Jakub Paweł - Svozilová, Hana - Černovská, Karolína - Stránská, Kamila - Ondroušková, Eva - Jarošová, Marie - Doubek, Michael - Kotašková, Jana - Uvirova, Magdalena - Zemanova, Zuzana - Pospíšilová, Šárka
PY  - 2025
TI  - Systematic Assessment of the Applicability of Comprehensive Genomic Testing Towards Better Cancer Clinical Diagnostics in the Czech Republic
KW  - comprehensive genomic testing
KW  - whole-genome sequencing (WGS)
KW  - chronic lymphocytic leukemia
KW  - clinical cancer diagnostics
UR  - https://www.ccg2025.eu/
N2  - 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.
ER  -

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 a Šárka POSPÍŠILOVÁ. Systematic Assessment of the Applicability of Comprehensive Genomic Testing Towards Better Cancer Clinical Diagnostics in the Czech Republic. In \textit{Clinical Cancer Genomics Conference, Amsterodam}. 2025.

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