在产前测序中的生物信息报告框架:从系统性审查的见解
Ashley J Pritchard1, Karen Mei Xian Lim2, Graeme Smith1
1NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Prenatal diagnosis
|January 30, 2026
概括
对胎儿异常的基因组测序揭示了不一致的生物信息学报告. 标准化方法对于对测序数据的准确解释和临床应用至关重要.
科学领域:
- 基因组医学是基因组医学.
- 生物信息学是一种生物信息学.
- 产前诊断 在产前诊断
背景情况:
- 基因组测序,包括外体和基因组测序,越来越多地用于胎儿异常调查.
- 更广泛的测序方法产生了大量的数据,需要强大的生物信息学管道.
- 目前生物信息学工作流程的实验室实践表现出显著的差异.
研究的目的:
- 系统地审查目前在产前测序中的生物信息学工作流程.
- 评估报告的透明度和这些工作流程变化的临床影响.
- 发现生物信息学方法的当前报告标准中的缺陷.
主要方法:
- 使用先前审查的搜索策略对产前测序研究 (2018-2022) 的系统审查.
- 包括154篇文章 (89个新记录 + 65个从事先审核).
- 数据提取的重点是生物信息学管道细节和临床相关性.
主要成果:
- 对生物信息学方法的报告在研究中经常是不完整的.
- 遗漏包括工具名称/版本,描述不佳的质量控制和不可重复的过策略.
- 缺陷阻碍了对测序结果的解释和对局限性的理解.
结论:
- 在产前测序中对生物信息学方法的不一致报告损害了可重现性和临床解释.
- 一份关于基本生物信息学指标的建议清单旨在改善报告标准.
- 需要提高透明度,以支持可复制和临床上有意义的基因组分析.
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