Rezapour Mostafa, Narayanan Aarthi, Mowery Wyatt H, Gurcan Metin Nafi
Center for Artificial Intelligence Research, Wake Forest University School of Medicine, Winston-Salem, NC, 27101, USA.
Department of Biology, George Mason University, Fairfax, VA, 22030, USA.
BMC Genomics. 2025 Apr 10;26(1):358. doi: 10.1186/s12864-025-11553-6.
This study evaluates the concordance between RNA sequencing (RNA-Seq) and NanoString technologies for gene expression analysis in non-human primates (NHPs) infected with Ebola virus (EBOV). A detailed comparison of both platforms revealed a strong correlation, with Spearman coefficients for 56 out of 62 samples ranging from 0.78 to 0.88. The mean and median coefficients were 0.83 and 0.85, respectively. Bland-Altman analysis confirmed high consistency across most measurements, with values falling within the 95% limits of agreement. Using a machine learning approach with the Supervised Magnitude-Altitude Scoring (SMAS) method trained on NanoString data, OAS1 was identified as a key gene signature for distinguishing RT-qPCR positive from negative samples. Remarkably, when used as the sole predictor in a logistic regression model, OAS1 maintained its predictive power on RNA-Seq data from the same cohort of EBOV-infected NHPs, achieving 100% accuracy in distinguishing infected from non-infected samples. OAS1 was also tested in a completely independent held-out test set, consisting of human monocyte-derived dendritic cells (DC) isolated and infected with different strains of the Ebola virus: wild-type (wt), VP35m, VP24m, along with a double mutant VP35m & VP24m, and again demonstrated a 100% accuracy rate in differentiating EBOV-infected from mock-infected samples, confirming its effectiveness as a predictive marker across diverse experimental setups and virus strains. Further differential expression analysis across both platforms identified 12 common genes (including ISG15, OAS1, IFI44, IFI27, IFIT2, IFIT3, IFI44L, MX1, MX2, OAS2, RSAD2, and OASL) that showed the highest levels of statistical significance and biological relevance. Gene Ontology (GO) analysis confirmed the involvement of these genes in key immune and viral infection pathways, highlighting their importance in EBOV infection. RNA-Seq uniquely identified genes such as CASP5, USP18, and DDX60, which are important in immune regulation and antiviral defense and were not detected by NanoString, demonstrating the broader detection capabilities of RNA-Seq. This study indicates a very strong agreement between RNA-Seq and NanoString platforms in gene expression analysis, with RNA-Seq displaying broader capabilities in identifying gene signatures.
本研究评估了RNA测序(RNA-Seq)和NanoString技术在感染埃博拉病毒(EBOV)的非人灵长类动物(NHP)基因表达分析中的一致性。对这两种平台的详细比较显示出很强的相关性,62个样本中有56个样本的Spearman系数在0.78至0.88之间。平均系数和中位数系数分别为0.83和0.85。Bland-Altman分析证实了大多数测量结果具有高度一致性,其值落在95%一致性界限内。使用基于NanoString数据训练的监督幅度-高度评分(SMAS)方法的机器学习方法,OAS1被确定为区分RT-qPCR阳性和阴性样本的关键基因特征。值得注意的是,当在逻辑回归模型中用作唯一预测因子时,OAS1在来自同一组感染EBOV的NHP的RNA-Seq数据上保持其预测能力,在区分感染样本和未感染样本方面达到了100%的准确率。OAS1还在一个完全独立的保留测试集中进行了测试,该测试集由分离并感染不同埃博拉病毒株的人单核细胞衍生树突状细胞(DC)组成:野生型(wt)、VP35m、VP24m以及双突变体VP35m和VP24m,并且再次在区分感染EBOV的样本和模拟感染的样本方面显示出100%的准确率,证实了其作为跨不同实验设置和病毒株的预测标志物的有效性。对这两种平台进行的进一步差异表达分析确定了12个共同基因(包括ISG15、OAS1、IFI44、IFI27、IFIT2、IFIT3、IFI44L、MX1、MX2、OAS2、RSAD2和OASL),这些基因显示出最高水平的统计学显著性和生物学相关性。基因本体论(GO)分析证实了这些基因参与关键的免疫和病毒感染途径,突出了它们在EBOV感染中的重要性。RNA-Seq独特地鉴定出了如CASP5、USP18和DDX60等基因,这些基因在免疫调节和抗病毒防御中很重要,而NanoString未检测到,这证明了RNA-Seq具有更广泛的检测能力。本研究表明RNA-Seq和NanoString平台在基因表达分析中具有非常强的一致性,RNA-Seq在识别基因特征方面具有更广泛的能力。