Copy number variation related disease genes

Abstract

Background: One of the most important and challenging issues in biomedicine and genomics is how to identify disease related genes. Datasets from high-throughput biotechnologies have been widely used to overcome this issue from various perspectives, e.g., epigenomics, genomics, transcriptomics, proteomics, metabolomics. At the genomic level, copy number variations (CNVs) have been recognized as critical genetic variations, which contribute significantly to genomic diversity. They have been associated with both common and complex diseases, and thus have a large influence on a variety of Mendelian and somatic genetic disorders.

Results: In this review, based on a variety of complex diseases, we give an overview about the critical role of using CNVs for identifying disease related genes, and discuss on details the different high-throughput and sequencing methods applied for CNV detection. Some limitations and challenges concerning CNV are also highlighted.

Conclusions: Reliable detection of CNVs will not only allow discriminating driver mutations for various diseases, but also helps to develop personalized medicine when integrating it with other genomic features.

Graphical abstract

Keywords

CNV / disease gene / complex disease / targeted approach / genome-wide approach / whole exome sequencing

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AUTHOR’S CONTRIBUTIONS

Bolin Chen initiated this review work; Chaima Aouiche and Bolin Chen discussed the whole outline and designed the review topics; Chaima Aouiche wrote the paper; Chaima Aouiche, Xuequn Shang and Bolin Chen revised the manuscript for many times throughly. All authors have read and approved the final manuscript.

ACKNOWLEDGEMENTS

This work was supported by the National Natural Science Foundation of China (Nos. 61602386 and 61332014), the Natural Science Foundation of Shaanxi Province (No. 2017JQ6008), and the top university visiting foundation for excellent youth scholars of Northwestern Polytechnical University.

COMPLIANCE WITH ETHICS GUIDELINES

The authors Chaima Aouiche, Xuequn Shang and Bolin Chen declare that they have no conflict of interests.

This article is a review article does not contain any studies with human or animal subjects performed by any of the authors.

RIGHTS & PERMISSIONS

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