Copy number variation related disease genes

被引：5
|
作者：
Aouiche, Chaima [1 ]
Shang, Xuequn [1 ]
Chen, Bolin [1 ]
机构：
[1] Northwestern Polytech Univ, Sch Comp Sci, Xian 710072, Peoples R China
来源：
QUANTITATIVE BIOLOGY | 2018年 / 6卷 / 02期
基金：
中国国家自然科学基金;
关键词：
CNV; disease gene; complex disease; targeted approach; genome-wide approach; whole exome sequencing;
D O I：
10.1007/s40484-018-0137-6
中图分类号：
Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
BackgroundOne 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.ResultsIn 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.ConclusionsReliable 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.
引用
收藏
页码：99 / 112
页数：14
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