用于序列变异检测的二代测序技术

NGS for Sequence Variants.

作者信息

Teng Shaolei

机构信息

Department of Biology, Howard University, Washington, DC, 20059, USA.

出版信息

Adv Exp Med Biol. 2016;939:1-20. doi: 10.1007/978-981-10-1503-8_1.

DOI:10.1007/978-981-10-1503-8_1

PMID:27807741

Abstract

Recent technological advances in next-generation sequencing (NGS) provide unprecedented power to sequence personal genomes, characterize genomic landscapes, and detect a large number of sequence variants. The discovery of disease-causing variants in patients' genomes has dramatically changed our perspective on precision medicine. This chapter provides an overview of sequence variant detection and analysis in NGS study. We outline the general methods for identifying different types of sequence variants from NGS data. We summarize the common approaches for analyzing and visualizing casual variants associated with complex diseases on precision medicine informatics.

摘要

下一代测序（NGS）技术的最新进展为个人基因组测序、描绘基因组图谱以及检测大量序列变异提供了前所未有的能力。在患者基因组中发现致病变异极大地改变了我们对精准医学的看法。本章概述了NGS研究中序列变异的检测和分析。我们概述了从NGS数据中识别不同类型序列变异的一般方法。我们总结了在精准医学信息学中分析和可视化与复杂疾病相关的偶然变异的常用方法。