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...
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...
