基因组构建对RNA-seq解释和诊断的影响
Rachel A Ungar1,2, Pagé C Goddard1,2, Tanner D Jensen1,2
1Department of Genetics, School of Medicine, Stanford University.
medRxiv : the preprint server for health sciences
|January 23, 2024
概括
基因组构造选择显著影响转录组学分析,影响基因表达量化和异常检测. 这项研究提供了一个数据库,以确保可靠的罕见病诊断和转录组分析.
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:
- 转录学对于理解遗传变异和诊断疾病至关重要.
- 以前的研究表明,基因组构造会影响基因组分析结果.
- 基因组构建对转录组学的影响仍然不太了解.
研究的目的:
- 评估不同基因组构造 (hg19,hg38,CHM13) 如何影响转录组学.
- 评估对表达式量化和异常值检测的影响.
- 为了识别受基因构造选择影响的基因和罕见疾病基因.
主要方法:
- 分析了386个罕见疾病和UDN和GREGoR联盟的对照样本.
- 跨hg19,hg38和CHM13基因组构建的转录组数据的比较.
- 表达式量化和异常值检测指标的评估.
主要成果:
- 在六个生物样本中确定了2800个基因,具有构建依赖量化.
- 发现1391个蛋白质编码基因和341个罕见疾病基因受到构造选择的影响.
- 观察到的基因的表达只能在特定的基因组构建中检测到;特征构建对异常检测的影响.
结论:
- 基因组构建选择明显影响转录组学分析,包括量化和异常检测.
- 为参考提供了受构造影响的基因数据库.
- 建议交叉引用转录组学数据与构建特定信息,以准确诊断罕见疾病.
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