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诊断测序数据的视觉检查:使用整合基因组学查看器 (IGV) 进行结构变异分析的实用指南

Benjamin Ganne^1,2, Clément Hersent³, Vincent Gatinois^3,4

¹Unit of Chromosomal Genetics and Research Platform Chromostem, Department of Molecular Genetics and Cytogenomics , Site Unique de Biologie (SUB), Montpellier CHU, Montpellier, France. benjamin.ganne@chu-montpellier.fr.

Methods in molecular biology (Clifton, N.J.)

|August 30, 2025

概括

本指南解释了如何使用IGV从下一代测序 (NGS) 数据中解释结构变量 (SV). 它有助于区分真正的SV和人工物, 以提高临床基因组学中的诊断准确性.

科学领域:

基因组学
生物信息学
临床诊断

背景情况:

下一代测序 (NGS) 已经改变了临床基因组学.
结构变异 (SVs) 在染色症等疾病中至关重要.
准确的SV解释对于患者的护理至关重要.

研究的目的:

提供从NGS数据解释SV的指南.
详细说明使用IGV评估SV真实性的方法.
为了区分真正的SV和测序文物.

主要方法:

使用整合基因组学查看器 (IGV) 进行 SV 分析.
实施 SV 解释的具体步骤.
应用技术来验证SV调用.

主要成果:

已建立的评估SV真实性的方法.
提供了真正的SV与文物区分的标准.
使用IGV证明了有效的SV解释.

结论:

有效地解释NGS衍生的SV数据可以提高诊断的准确性.
这份指南有助于临床医生和研究人员进行 SV 分析.
改善SV解释导致更好的患者护理结果.

关键词:

生物信息学染色体副本编号变化美国政府结构变化

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