Institute of Diagnostic Virology, Friedrich-Loeffler-Institut, Federal Research Institute for Animal Health, Südufer 10, 17493, Greifswald-Insel Riems, Germany.
Department of Infectious Diseases, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy.
Parasitol Res. 2020 Aug;119(8):2623-2629. doi: 10.1007/s00436-020-06754-9. Epub 2020 Jun 26.
Shotgun metagenomics with high-throughput sequencing (HTS) techniques is increasingly used for pathogen identification and characterization. While many studies apply targeted amplicon sequencing, here we used untargeted metagenomics to simultaneously identify protists and helminths in pre-diagnosed faecal and tissue samples. The approach starts from RNA and operates without an amplification step, therefore allowing the detection of all eukaryotes, including pathogens, since it circumvents the bias typically observed in amplicon-based HTS approaches. The generated metagenomics datasets were analysed using the RIEMS tool for initial taxonomic read assignment. Mapping analyses against ribosomal reference sequences were subsequently applied to extract 18S rRNA sequences abundantly present in the sequence datasets. The original diagnosis, which was based on microscopy and/or PCR, could be confirmed in nearly all cases using ribosomal RNA metagenomics. In addition to the pre-diagnosed taxa, we detected other intestinal eukaryotic parasites of uncertain pathogenicity (of the genera Dientamoeba, Entamoeba, Endolimax, Hymenolepis) that are often excluded from routine diagnostic protocols. The study clearly demonstrates the applicability of untargeted RNA metagenomics for the parallel detection of parasites.
高通量测序(HTS)技术的 shotgun 宏基因组学越来越多地用于病原体的鉴定和特征分析。虽然许多研究都采用了靶向扩增子测序,但在这里,我们使用无靶向宏基因组学来同时鉴定预先诊断的粪便和组织样本中的原生动物和寄生虫。该方法从 RNA 开始,并且不经过扩增步骤,因此可以检测到所有真核生物,包括病原体,因为它避免了基于扩增子的 HTS 方法中通常观察到的偏差。使用 RIEMS 工具对生成的宏基因组数据集进行了分析,以便对初始分类单元进行读分配。随后对核糖体参考序列进行映射分析,以提取在序列数据集中大量存在的 18S rRNA 序列。几乎所有情况下,使用核糖体 RNA 宏基因组学都可以确认基于显微镜和/或 PCR 的原始诊断。除了预先诊断的分类单元外,我们还检测到其他肠道真核寄生虫(属于 Dientamoeba、Entamoeba、Endolimax、Hymenolepis 属)的不确定性致病性,这些寄生虫通常被排除在常规诊断方案之外。该研究清楚地表明了无靶向 RNA 宏基因组学在平行检测寄生虫方面的适用性。