Vecoli Cecilia
Institute of Clinical Physiology-CNR, Via Moruzzi 1, 56124, Pisa, Italy,
Methods Mol Biol. 2015;1299:51-64. doi: 10.1007/978-1-4939-2572-8_4.
In recent years, next-generation sequencing (NGS) technologies have revolutionized approaches to genetic studies, making whole-genome sequencing a possible way for obtaining global genomic information. At present, three most NGS platforms are used in genetics for clonally amplified templates. These technologies share general processing steps but differing in specific technical details that determine their limits or advantages. NGS has been recently shown to have great potential for identifying novel causative mutations in different disorders. It is expected that the NGS will be increasingly important in the study of inherited and complex traits such as cardiovascular diseases (CVDs). Indeed, the identification and characterization of genes that enhance prediction of CVDs risk remain an important challenge for improving prevention and treatment.
近年来，新一代测序（NGS）技术彻底改变了基因研究方法，使全基因组测序成为获取全球基因组信息的一种可行途径。目前，遗传学中用于克隆扩增模板的最常用的三种NGS平台。这些技术有共同的处理步骤，但在决定其局限性或优势的具体技术细节上有所不同。最近研究表明，NGS在识别不同疾病中的新型致病突变方面具有巨大潜力。预计NGS在诸如心血管疾病（CVD）等遗传性和复杂性状的研究中将变得越来越重要。事实上，增强对CVD风险预测的基因的识别和表征仍然是改善预防和治疗的一项重要挑战。
