Kabiljo Renata, Bowles Harry, Marriott Heather, Jones Ashley R, Bouton Clement R, Dobson Richard J B, Quinn John P, Al Khleifat Ahmad, Swanson Chad M, Al-Chalabi Ammar, Iacoangeli Alfredo
Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London SE5 8AF, UK.
Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 9NU, UK.
iScience. 2022 Oct 7;25(11):105289. doi: 10.1016/j.isci.2022.105289. eCollection 2022 Nov 18.
Human endogenous retroviruses (HERVs) integrated into the human genome as a result of ancient exogenous infections and currently comprise ∼8% of our genome. The members of the most recently acquired HERV family, HERV-Ks, still retain the potential to produce viral molecules and have been linked to a wide range of diseases including cancer and neurodegeneration. Although a range of tools for HERV detection in NGS data exist, most of them lack wet lab validation and they do not cover all steps of the analysis. Here, we describe RetroSnake, an end-to-end, modular, computationally efficient, and customizable pipeline for the discovery of HERVs in short-read NGS data. RetroSnake is based on an extensively wet-lab validated protocol, it covers all steps of the analysis from raw data to the generation of annotated results presented as an interactive html file, and it is easy to use by life scientists without substantial computational training. Availability and implementation: The Pipeline and an extensive documentation are available on GitHub.
人类内源性逆转录病毒(HERVs)是由于远古时期的外源感染而整合到人类基因组中的,目前约占我们基因组的8%。最近获得的HERV家族成员HERV-Ks,仍然保留产生病毒分子的潜力,并与包括癌症和神经退行性疾病在内的多种疾病有关。尽管存在一系列用于在NGS数据中检测HERV的工具,但其中大多数缺乏湿实验室验证,并且没有涵盖分析的所有步骤。在这里,我们描述了RetroSnake,这是一种用于在短读长NGS数据中发现HERV的端到端、模块化、计算高效且可定制的流程。RetroSnake基于经过广泛湿实验室验证的协议,它涵盖了从原始数据到生成以交互式html文件形式呈现的注释结果的所有分析步骤,并且生命科学家无需大量计算训练即可轻松使用。可用性和实现方式:该流程和详细文档可在GitHub上获取。