首页|长读长测序技术在胚胎植入前遗传学检测中的应用

长读长测序技术在胚胎植入前遗传学检测中的应用

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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.
Application of long-read sequencing in preimplantation genetic testing
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.

Reproductive healthPreimplantation genetic testingLong-read sequencingClinical application

万成、丁韬力、马杰良、王兴兴、杨季、陆思嘉

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序康医疗科技(苏州)有限公司,苏州 215000

生殖健康 胚胎植入前遗传学检测 长读长测序 临床应用

2024

中华生殖与避孕杂志
上海计划生育科学研究所

中华生殖与避孕杂志

CSTPCD北大核心
影响因子:0.989
ISSN:2096-2916
年,卷(期):2024.44(2)
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