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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...
The application of mass spectrometry in diagnostics of glycosylation disorders
Zuzana Pakanová, Marek Nemčovič, Rebeka Kodríková, Maroš Krchňák, Anna Šalingová, Claudia Šebová, Vladimír Bzdúch, Hana Hansíková, Ján Mucha
Congenital disorders of glycosylation (CDG) are rare hereditary diseases caused by mutations of genes coding enzymes of complex glycosylation pathways. Common clinical manifestation includes growth...
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...
Chronic, difficult-to-treat diabetic foot ulcerations place a massive burden on the patient and the healthcare system. Despite using many conventional and alternative treatments, we cannot...
