Ontology highlight
ABSTRACT:
SUBMITTER: Hyblova M
PROVIDER: S-EPMC7460070 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Diagnostics (Basel, Switzerland) 20200808 8
Detection of copy number variants as an integral part of noninvasive prenatal testing is increasingly used in clinical practice worldwide. We performed validation on plasma samples from 34 pregnant women with known aberrations using cell-free DNA sequencing to evaluate the sensitivity for copy number variants (CNV) detection using an in-house CNV fraction-based detection algorithm. The sensitivity for CNVs smaller than 3 megabases (Mb), larger than 3Mb, and overall was 78.57%, 100%, and 90.6%, r ...[more]