Advances in identifying coding variants of common complex diseases

• 作者: Cai Minglong Ran Delin Zhang Xuejun
• 来源期刊: 生物组学研究杂志（英文）
• 关键词: common diseases GWAS next generation sequencing coding variants non-coding variants
• 年，卷（期）: 2019,（4）
• 所属期刊栏目: Review Article
• 页码范围: 153-158
• 页数: 6页
• 语种: 中文
• DOI: 10.1097/JBR.0000000000000046

摘要

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.