在生物信息工作流程中对SARS-CoV-2基因组序列的统一变异调用进行建议
Ryan Connor1, Migun Shakya2, David A Yarmosh3,4
1National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20894, USA.
Viruses
|March 28, 2024
概括
对SARS-CoV-2基因组测序数据的生物信息分析缺乏标准化,导致病毒序列不一致. 采用标准化的协议对于准确的变种识别和有效的公共卫生反应至关重要.
科学领域:
- 基因组学就是基因组学.
- 生物信息学是一种生物信息学.
- 病毒学 病毒学
背景情况:
- 对SARS-CoV-2的基因组测序对于识别变体和告知公共卫生战略至关重要.
- 随着COVID-19大流行,测序的数量急剧增加,使得变种的快速检测和响应成为可能.
- 目前对测序数据的生物信息分析在不同组之间是不一致的.
研究的目的:
- 要突出不同生物信息协议产生的SARS-CoV-2基因组序列的差异.
- 为一致的生物信息分析提出标准化参数和协议.
- 强调数据的一致性对于病原体监测的重要性.
主要方法:
- 在Illumina和牛津纳米孔测序平台上使用的下游生物信息协议的比较.
- 来自临床样本的原始序列数据的分析,以确定产生的共识基因组的变异.
- 差异的表征包括单核酸多态,插入和删除.
主要成果:
- 不同的生物信息工作流程从同一样本中产生了不同的SARS-CoV-2病毒序列.
- 变异包括单个核酸多态的差异,以及插入和删除的包含/排除.
- 这些不一致性在Illumina和牛津纳米孔测序平台上都被观察到.
结论:
- 缺乏标准化的生物信息分析导致SARS-CoV-2基因组序列存在重大差异.
- 标准化协议对于准确的变种识别和可靠的病原体监测至关重要.
- 一致的基因组数据对于有效的流行病准备和公共卫生决策至关重要.
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