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...
Presently, methods based on DNA sequencing are frequently used in clinical microbiology laboratory. Single locus sequencing is a traditional method used for bacterial identification and...
RNDr. Tomáš Szemes, PhD., RNDr. Gabriel Minárik, PhD., RNDr. Michaela Hýblová, MUDr. Jana Barošová, Werner Krampl
Non-invasive prenatal testing (NIPT) of the most frequent aneuploidies by way of analysing the free DNA obtained from peripheral blood of pregnant women represents on...