RetroSnake: A modular pipeline to detect human endogenous retroviruses in genome sequencing data

Renata Kabiljo; Harry Bowles; Heather Marriott; Ashley R Jones; Clement R Bouton; Richard J B Dobson; John P Quinn; Ahmad Al Khleifat; Chad M Swanson; Ammar Al-Chalabi; Alfredo Iacoangeli

doi:10.1016/j.isci.2022.105289

RetroSnake: A modular pipeline to detect human endogenous retroviruses in genome sequencing data

iScience. 2022 Oct 7;25(11):105289. doi: 10.1016/j.isci.2022.105289. eCollection 2022 Nov 18.

Authors

Renata Kabiljo^{1

2}, Harry Bowles^{1

2}, Heather Marriott^{1

2}, Ashley R Jones², Clement R Bouton³, Richard J B Dobson^{1

4

5

6}, John P Quinn⁷, Ahmad Al Khleifat², Chad M Swanson³, Ammar Al-Chalabi², Alfredo Iacoangeli^{1

2

4}

Affiliations

¹ Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London SE5 8AF, UK.
² 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.
³ Department of Infectious Diseases, School of Immunology and Microbial Sciences, King's College London, London, UK.
⁴ NIHR Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London, London, UK.
⁵ Institute of Health Informatics, University College London, London, UK.
⁶ NIHR Biomedical Research Centre at University College London Hospitals NHS Foundation Trust, London, UK.
⁷ Department of Pharmacology and Therapeutics, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool L69 3BX, UK.

Abstract

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.

Keywords: Biocomputational method; Bioinformatics; Sequence analysis.

Abstract

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