Exome sequencing and its application
作者： Xin ZHANG , Min LI , Xue-Jun ZHANG
DOI: 10.3724/SP.J.1005.2011.00847
关键词: Single-nucleotide polymorphism 、 Genetic association 、 Exome sequencing 、 Genetics 、 Biology 、 Genome-wide association study 、 Gene 、 Genome 、 Exome 、 Disease
摘要: In recent years, researchers have identified a large number of complex diseases/traits-associated genetic variants by performing genome-wide association studies (GWAS), which may provide important clues on understanding the mechanisms related diseases. However, GWAS has its own limitations in terms being false positive, negative results, very few SNPs located functional areas and insensitive to detect rare structural variations, results application limitation this method. With development next-generation sequencing technology, whole genome exome developed rapidly an opportunity for us deal with problem caused GWAS. This high-throughput technology is applied (1% genome) discover most diseases-related variations exons. Furthermore, it highly effective common variations. Due these advantages, become powerful efficient strategy identifying genes responsible mendelian disorders diseases, will be helpful diseases clinical diagnosis.
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