Ontology highlight
ABSTRACT:
SUBMITTER: Sandmann S
PROVIDER: S-EPMC7604644 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Sandmann Sarah S Wöste Marius M de Graaf Aniek O AO Burkhardt Birgit B Jansen Joop H JH Dugas Martin M
GigaScience 20201101 11
<h4>Background</h4>Copy number variants (CNVs) are known to play an important role in the development and progression of several diseases. However, detection of CNVs with whole-exome sequencing (WES) experiments is challenging. Usually, additional experiments have to be performed.<h4>Findings</h4>We developed a novel algorithm for somatic CNV calling in matched WES data called "CopyDetective". Different from other approaches, CNV calling with CopyDetective consists of a 2-step procedure: first, ...[more]