长读长测序技术在胚胎植入前遗传学检测中的应用
Application of long-read sequencing in preimplantation genetic testing
万成 1丁韬力 1马杰良 1王兴兴 1杨季 1陆思嘉1
作者信息
- 1. 序康医疗科技(苏州)有限公司,苏州 215000
- 折叠
摘要
近年来,长读长测序技术发展迅速,在基因组、转录组、表观遗传学等研究方向发挥了重要作用,并显示出在临床检测领域的广阔应用前景.本文介绍了主要的长读长测序平台的基本原理和性能,综述了该技术在胚胎植入前遗传学检测中的研究进展,以及当前面临的主要挑战和未来可能的发展方向.
Abstract
In recent years,the long-read sequencing technology has been developing rapidly,playing a crucial role in research fields of genomics,transcriptomics,and epigenetics,and showing broad application prospects in the field of clinical testing.This paper introduces the basic principles and performance of the main long-read sequencing platforms,reviews the research progress of this technology in preimplantation genetic testing,and discusses the major challenges currently faced and possible future directions.
关键词
生殖健康/胚胎植入前遗传学检测/长读长测序/临床应用Key words
Reproductive health/Preimplantation genetic testing/Long-read sequencing/Clinical application引用本文复制引用
出版年
2024
NETL
NSTL
万方数据