Many common diseases are characterized by polygenic architectures in which a single variant has only a small effect on phenotype.Genome-wide association studies and next generation sequencing have identified thousands...Many common diseases are characterized by polygenic architectures in which a single variant has only a small effect on phenotype.Genome-wide association studies and next generation sequencing have identified thousands of genetic variants of disease susceptibility.Recently,non-coding variants identified by genome-wide association studies have been systematically reviewed.Here,we review disease-causing coding variants and their relevance to clinical medicine.展开更多
基金This work was financially supported by the National Natural Science Foundation of China(No.81130031).
文摘Many common diseases are characterized by polygenic architectures in which a single variant has only a small effect on phenotype.Genome-wide association studies and next generation sequencing have identified thousands of genetic variants of disease susceptibility.Recently,non-coding variants identified by genome-wide association studies have been systematically reviewed.Here,we review disease-causing coding variants and their relevance to clinical medicine.