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

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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626663/
https://www.ncbi.nlm.nih.gov/pubmed/36339261
http://dx.doi.org/10.1016/j.isci.2022.105289
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author 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
author_facet 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
author_sort Kabiljo, Renata
collection PubMed
description 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.
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spelling pubmed-96266632022-11-03 RetroSnake: A modular pipeline to detect human endogenous retroviruses in genome sequencing data 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 iScience Article 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. Elsevier 2022-10-07 /pmc/articles/PMC9626663/ /pubmed/36339261 http://dx.doi.org/10.1016/j.isci.2022.105289 Text en © 2022. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
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
RetroSnake: A modular pipeline to detect human endogenous retroviruses in genome sequencing data
title RetroSnake: A modular pipeline to detect human endogenous retroviruses in genome sequencing data
title_full RetroSnake: A modular pipeline to detect human endogenous retroviruses in genome sequencing data
title_fullStr RetroSnake: A modular pipeline to detect human endogenous retroviruses in genome sequencing data
title_full_unstemmed RetroSnake: A modular pipeline to detect human endogenous retroviruses in genome sequencing data
title_short RetroSnake: A modular pipeline to detect human endogenous retroviruses in genome sequencing data
title_sort retrosnake: a modular pipeline to detect human endogenous retroviruses in genome sequencing data
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626663/
https://www.ncbi.nlm.nih.gov/pubmed/36339261
http://dx.doi.org/10.1016/j.isci.2022.105289
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