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HiFi长读RNA测序增强了罕见疾病的临床诊断
Carolina Jaramillo Oquendo1, Federico Ferraro2, Htoo A Wai1
1Human Genetics and Genomic Medicine, Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
European journal of human genetics : EJHG
|March 11, 2026
概括
长读RNA测序 (RNA-seq) 能够有效地检测罕见疾病中的拼接改变变异,补充短读方法. 这项技术增强了致病拼接事件的识别和解释,以改善诊断.
科学领域:
- 基因组学就是基因组学.
- 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:
- 结合破坏性变异导致三分之一的遗传疾病,但经常被当前的临床检测方法遗漏.
- 短读RNA测序 (RNA-seq) 有助于检测拼接变化,但长读RNA-seq的实用性尚不清楚.
研究的目的:
- 评估PacBio长读RNA测序 (LRS) 在识别罕见遗传疾病中的致病拼接事件中的有效性.
- 为了比较LRS与短读RNA测序的性能,以检测拼接变化.
主要方法:
- 在参与者身上进行了长读RNA测序,这些参与者怀疑有变异的变异,使用Revio仪器上的Kinnex全长RNA协议.
- 使用阅读细分和Iso-Seq处理HiFi读数,然后使用Pigeon进行分类和过.
- 数据分析的重点是检测已知的和新的拼接事件,并将转录丰度与短读数据进行比较.
主要成果:
- 长读RNA测序检测到与短读RNA测序相似的与疾病相关的拼接事件,纤维细胞产生更多的转录.
- 新型异构体约占检测到的转录的14%,根据组织类型和实验治疗观察到的变异.
- 转录丰度估计显示了短读和长读平台之间的高度一致性 (皮尔森r=0.86在血液中,0.61在纤维细胞中).
- LRS确定了21个已知的拼接事件,并在8个案例中揭示了额外的转录水平效应,包括内子保留,外子跳转和异形切换.
结论:
- 长读RNA测序显著改善了罕见疾病中临床相关拼接事件的检测和解释.
- 这些发现支持将LRS整合到罕见遗传疾病的诊断工作流程中,从而提高诊断产量.
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