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Copy Number Variation: Methods and Clinical Applications
- Source :
- Applied Sciences, Vol 11, Iss 819, p 819 (2021)
- Publication Year :
- 2021
- Publisher :
- MDPI AG, 2021.
-
Abstract
- 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.
- Subjects :
- 0301 basic medicine
Computer science
Computational biology
molecular methods
lcsh:Technology
cytogenetics
CNV interpretation
lcsh:Chemistry
03 medical and health sciences
0302 clinical medicine
CNV detection
General Materials Science
Copy-number variation
lcsh:QH301-705.5
Instrumentation
Fluid Flow and Transfer Processes
lcsh:T
Process Chemistry and Technology
General Engineering
bioinformatics tools
lcsh:QC1-999
Computer Science Applications
030104 developmental biology
lcsh:Biology (General)
lcsh:QD1-999
lcsh:TA1-2040
030220 oncology & carcinogenesis
lcsh:Engineering (General). Civil engineering (General)
lcsh:Physics
copy number variants
Subjects
Details
- ISSN :
- 20763417
- Volume :
- 11
- Database :
- OpenAIRE
- Journal :
- Applied Sciences
- Accession number :
- edsair.doi.dedup.....0cbfffd0086ec834234b667ee5664a77