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Copy Number Variation: Methods and Clinical Applications

by 1,2,3,*, 1,2,3,4,*, 3,5, 1,2,3,4, 6, 1,3,7, 2,3,8, 6 and 1,2,3
Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, 841 04 Bratislava, Slovakia
Geneton Ltd., 841 04 Bratislava, Slovakia
Comenius University Science Park, 841 04 Bratislava, Slovakia
Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, 845 05 Bratislava, Slovakia
Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University, 811 08 Bratislava, Slovakia
Department of Human Genetics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary
Medirex Group Academy n.o., 821 04 Bratislava, Slovakia
Slovak Center of Scientific and Technical Information, 811 04 Bratislava, Slovakia
Authors to whom correspondence should be addressed.
Appl. Sci. 2021, 11(2), 819;
Received: 24 December 2020 / Revised: 8 January 2021 / Accepted: 13 January 2021 / Published: 16 January 2021
(This article belongs to the Special Issue Applications of Nucleic Acids in Chemistry and Biology)
Gains and losses of large segments of genomic DNA, known as copy number variants (CNVs) gained considerable interest in clinical diagnostics lately, as particular forms may lead to inherited genetic diseases. In recent decades, researchers developed a wide variety of cytogenetic and molecular methods with different detection capabilities to detect clinically relevant CNVs. In this review, we summarize methodological progress from conventional approaches to current state of the art techniques capable of detecting CNVs from a few bases up to several megabases. Although the recent rapid progress of sequencing methods has enabled precise detection of CNVs, determining their functional effect on cellular and whole-body physiology remains a challenge. Here, we provide a comprehensive list of databases and bioinformatics tools that may serve as useful assets for researchers, laboratory diagnosticians, and clinical geneticists facing the challenge of CNV detection and interpretation. View Full-Text
Keywords: copy number variants; cytogenetics; molecular methods; bioinformatics tools; CNV detection; CNV interpretation copy number variants; cytogenetics; molecular methods; bioinformatics tools; CNV detection; CNV interpretation
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MDPI and ACS Style

Pös, O.; Radvanszky, J.; Styk, J.; Pös, Z.; Buglyó, G.; Kajsik, M.; Budis, J.; Nagy, B.; Szemes, T. Copy Number Variation: Methods and Clinical Applications. Appl. Sci. 2021, 11, 819.

AMA Style

Pös O, Radvanszky J, Styk J, Pös Z, Buglyó G, Kajsik M, Budis J, Nagy B, Szemes T. Copy Number Variation: Methods and Clinical Applications. Applied Sciences. 2021; 11(2):819.

Chicago/Turabian Style

Pös, Ondrej, Jan Radvanszky, Jakub Styk, Zuzana Pös, Gergely Buglyó, Michal Kajsik, Jaroslav Budis, Bálint Nagy, and Tomas Szemes. 2021. "Copy Number Variation: Methods and Clinical Applications" Applied Sciences 11, no. 2: 819.

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