Whole-genome sequencing methods for CNV detection
Zuzana Klinovská, Marcel Kucharik, Jaroslav Budiš, Tomáš Szemes
The importance of copy number variants (CNVs) in reference to human health is rising continuously. They are linked to various types of disorders, syndromes and...
Lengths of circulating DNA fragments as a promising predictor of cancer stage
Marek Štrba, Jaroslav Budiš, Werner Krampl, Tomáš Sládeček, Ondrej Pös, Mária Lucká, Tomáš Szemes
Bioinformatics has become one of the key scientific disciplines during the 21st century. The aim of this work was to utilize state-of-the-art tools and help...
Detection of copy number variation from low-coverage whole-genome sequencing data
Zuzana Klinovská, Marcel Kucharik, Martina Sekelská, Michaela Hýblová, Jaroslav Budiš, Tomáš Szemes
Copy number variation (CNV) is a form of structural variant that leads to an abnormal number of copies of genomic regions in a cell. Next-generation-sequencing...
Martina Sekelská, Anita Izsáková, Katarína Kubošová, Petra Tilandyová, Erika Csekes, Žaneta Kúchová, Michaela Hýblová, Renata Lukačková, Dagmar Landlová, Peter Križan, Mária Haršanyová, Jaroslav Budiš, Marcel Kucharik, Tomáš Szemes, Gabriel Minárik
Low coverage whole genome sequencing routinely used in noninvasive prenatal testing is able to detect not only most commonly screened chromosomal aneuploidies but also nontargeted...
