期刊
APPLIED SCIENCES-BASEL
卷 11, 期 2, 页码 -出版社
MDPI
DOI: 10.3390/app11020819
关键词
copy number variants; cytogenetics; molecular methods; bioinformatics tools; CNV detection; CNV interpretation
类别
资金
- OP Integrated Infrastructure for the project: Center for biomedical research [ITMS: 313011W428]
- OP Research and Development [ITMS: 26240120038]
- OP Integrated Infrastructure [ITMS: 313011V578]
- European Regional Development Fund
This review summarizes the methodological progress in detecting CNVs, from conventional approaches to state-of-the-art techniques capable of detecting CNVs of various sizes. While rapid progress in sequencing methods has enabled precise detection of CNVs, determining their functional effects on cellular and whole-body physiology remains a challenge.
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.
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