基因测序技术的发展与临床应用概述

Overview of progress and clinical application in gene sequencing technology

摘要:

基因检测技术是近年来伴随“精准医疗”概念的提出而迅速发展起来的一门科学技术，它可以从基因组机制上阐释遗传学、发育生物学、进化生物学等学科的经典概念，在全基因组水平延伸了染色体高级构象、细胞异质性、功能模块等新概念，为精准医学开辟了应用性新领域。

Abstract:

Gene sequence technology has rapidly developed with the concept of ‘precise medical treatment’ in recent years. It explains the classical concepts of genetics，developmental biology，evolutionary biology and other disciplines from the perspective of genomic mechanisms. New concepts such as high-order chromosome conformation，cellular heterogeneity，and functional modules are extended at the genome level by it，which also opens up new fields of application for precision medicine.