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...
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...
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...
