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[高通量测序在精确预防和控制遗传出生缺陷中的应用]

Y D Liu¹, Y Q You², Z Li³

¹Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha 410078, China Department of Genetics, Hunan Jiahui Genetic Hospital, Changsha 410078, China.

Zhonghua yi xue za zhi

|February 12, 2025

概括

高通量测序,包括下一代测序 (NGS) 和第三代测序 (TGS),对于预防遗传性出生缺陷至关重要. 这些先进的技术改善了所有预防层面的遗传疾病检测和管理.

科学领域:

遗传学遗传学是一个
分子生物学分子生物学
生物信息学是一种生物信息学.

背景情况:

遗传性出生缺陷带来了重大的公共卫生挑战.
高通量测序技术已经彻底改变了基因分析.
下一代测序 (NGS) 方法在临床环境中被广泛使用.

研究的目的:

审查高通量测序在遗传性出生缺陷预防中的应用.
探索这一领域的关键技术和趋势.
突出第三代测序 (TGS) 在解决复杂遗传疾病方面的作用.

主要方法:

对下一代测序 (NGS) 应用程序的审查:非侵入性产前检测 (NIPT),复制数变异测序 (CNV-seq) 和外基因组测序 (ES).
分析第三代测序 (TGS) 进步及其在长读测序中的优势.
在管理复杂和困难的遗传疾病时探索TGS.

主要成果:

像NIPT,CNV-seq和ES这样的NGS技术已经在临床实践中用于出生缺陷查.
在克服与复杂遗传疾病相关的挑战方面,TGS显示出显著的潜力.
TGS增强了预防和控制遗传性出生缺陷的综合系统.

结论:

高通量测序,特别是TGS,正在促进遗传性出生缺陷的预防和控制.
这些技术的持续研究和应用将进一步提高诊断能力.
TGS为复杂的遗传疾病病例提供了新的解决方案,改善了整体生殖健康结果.

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