Türk, ErdemAyaz, AkifYüksek, AyhanSüzek, Barış Ethem2023-10-132023-10-132023Türk, E., Ayaz, A., Yüksek, A. ve Süzek, B. E. (2023). DEVOUR: Deleterious variants on uncovered regions in whole-exome sequencing. PeerJ, 11. https://doi.org/10.7717/peerj.160262167-8359https://doi.org/10.7717/peerj.16026https://hdl.handle.net/20.500.12511/11587The discovery of low-coverage (i.e. uncovered) regions containing clinically significant variants, especially when they are related to the patient's clinical phenotype, is critical for whole-exome sequencing (WES) based clinical diagnosis. Therefore, it is essential to develop tools to identify the existence of clinically important variants in low-coverage regions. Here, we introduce a desktop application, namely DEVOUR (DEleterious Variants On Uncovered Regions), that analyzes read alignments for WES experiments, identifies genomic regions with no or low-coverage (read depth < 5) and then annotates known variants in the low-coverage regions using clinical variant annotation databases. As a proof of concept, DEVOUR was used to analyze a total of 28 samples from a publicly available Hirschsprung disease-related WES project (NCBI Bioproject: https:/www. ncbi.nlm.nih.gov/bioproject/?term=PRJEB19327), revealing the potential existence of 98 disease-associated variants in low-coverage regions. DEVOUR is available from https://github.com/projectDevour/DEVOUR under the MIT license.enAttribution 4.0 Internationalinfo:eu-repo/semantics/openAccessNext-Generation Sequence (NGS) AnalysisWhole-Exome Sequencing (WES) AnalysisMedical GeneticsGenetic Disposition to DiseaseGenetic DiseasesGenetic VariantsClinical NGS InformaticsArticle1110.7717/peerj.16026Q20010744704000052-s2.0-8517387917537727687Q1