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...
