数字农科院2.0

MGISEQ-2000、HiSeq 2000与NovaSeq 6000平台全基因组重测序数据的比较分析

文献类型: 中文期刊

作者: 李伟宁;刘刚;周荣;唐中林;刘剑锋;孙飞舟

作者机构:

关键词: MGISEQ-2000 ; HiSeq 2000 ; NovaSeq 6000 ; 测序质量 ; SNP

期刊名称:中国畜牧杂志

ISSN: 0258-7033

年卷期: 2021 年 57 卷 11 期

页码:

收录情况: 北大核心(2020版) ; 农林核心(2020版) ; 科技核心(2020版)

摘要: 全基因组重测序已经成为生物信息学获取数据的最主要途径之一,但不同二代测序平台的数据质量及稳定性可能存在差异,从而对研究结果产生影响.本研究基于MGISEQ-2000、HiSeq 2000和NovaSeq 60003个测序平台分别对猪DNA样本进行全基因组重测序,分析比较3个平台的原始数据质量、比对质量和SNP变异检测情况,同时以猪50K芯片分型结果为标准评价测序数据SNP分型的准确性,以检验上述3个平台之间是否存在系统性差异.结果表明,3个平台的原始数据量及GC含量相近,测序深度均达到送测要求,平均测序深度在20X以上,HiSeq 2000和NovaSeq 6000平台Q30以上reads所占比例高于MGISEQ-2000(P<0.01),但两者的重复reads所占比例也高于MGISEQ-2000(P<0.01).MGISEQ-2000在双端比对率、平均比对深度和覆盖度超过20X的位点所占比例方面均高于其他2个平台(P<0.05),而NovaSeq 6000在平均比对深度和覆盖度超过20X的位点占比上又高于HiSeq 2000(P<0.05).MGISEQ-2000的SNP位点判型准确性与HiSeq 2000相似,二者平均准确性均达到97.21%且高于NovaSeq 6000.来自NovaSeq 6000平台的2个样本的SNP位点判型准确性结果远低于其他2个平台的结果,且其在测序稳定性上不如MGISEQ-2000和HiSeq 2000.综上,MGISEQ-2000、HiSeq 2000和NovaSeq 60003个平台的测序性能存在一定差异,但三者的测序数据均达到了生物信息学分析的要求,其中MGISEQ-2000平台在测序质量和稳定性上表现出色,可以为生物信息学分析提供更可靠的重测序数据.

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