CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer

Molecular diagnosis is an essential step of patient care. An increasing number of Copy Number Variations (CNVs) have been identified that are involved in inherited and somatic diseases. However, there are few existing tools to identify them among amplicon sequencing data generated by Next Generation...

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Autores principales: Derouault, Paco, Chauzeix, Jasmine, Rizzo, David, Miressi, Federica, Magdelaine, Corinne, Bourthoumieu, Sylvie, Durand, Karine, Dzugan, Hélène, Feuillard, Jean, Sturtz, Franck, Mérillou, Stéphane, Lia, Anne-Sophie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041855/
https://www.ncbi.nlm.nih.gov/pubmed/32049956
http://dx.doi.org/10.1371/journal.pcbi.1007503
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author Derouault, Paco
Chauzeix, Jasmine
Rizzo, David
Miressi, Federica
Magdelaine, Corinne
Bourthoumieu, Sylvie
Durand, Karine
Dzugan, Hélène
Feuillard, Jean
Sturtz, Franck
Mérillou, Stéphane
Lia, Anne-Sophie
author_facet Derouault, Paco
Chauzeix, Jasmine
Rizzo, David
Miressi, Federica
Magdelaine, Corinne
Bourthoumieu, Sylvie
Durand, Karine
Dzugan, Hélène
Feuillard, Jean
Sturtz, Franck
Mérillou, Stéphane
Lia, Anne-Sophie
author_sort Derouault, Paco
collection PubMed
description Molecular diagnosis is an essential step of patient care. An increasing number of Copy Number Variations (CNVs) have been identified that are involved in inherited and somatic diseases. However, there are few existing tools to identify them among amplicon sequencing data generated by Next Generation Sequencing (NGS). We present here a new tool, CovCopCan, that allows the rapid and easy detection of CNVs in inherited diseases, as well as somatic data of patients with cancer, even with a low ratio of cancer cells to healthy cells. This tool could be very useful for molecular geneticists to rapidly identify CNVs in an interactive and user-friendly way.
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spelling pubmed-70418552020-03-06 CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer Derouault, Paco Chauzeix, Jasmine Rizzo, David Miressi, Federica Magdelaine, Corinne Bourthoumieu, Sylvie Durand, Karine Dzugan, Hélène Feuillard, Jean Sturtz, Franck Mérillou, Stéphane Lia, Anne-Sophie PLoS Comput Biol Research Article Molecular diagnosis is an essential step of patient care. An increasing number of Copy Number Variations (CNVs) have been identified that are involved in inherited and somatic diseases. However, there are few existing tools to identify them among amplicon sequencing data generated by Next Generation Sequencing (NGS). We present here a new tool, CovCopCan, that allows the rapid and easy detection of CNVs in inherited diseases, as well as somatic data of patients with cancer, even with a low ratio of cancer cells to healthy cells. This tool could be very useful for molecular geneticists to rapidly identify CNVs in an interactive and user-friendly way. Public Library of Science 2020-02-12 /pmc/articles/PMC7041855/ /pubmed/32049956 http://dx.doi.org/10.1371/journal.pcbi.1007503 Text en © 2020 Derouault et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Derouault, Paco
Chauzeix, Jasmine
Rizzo, David
Miressi, Federica
Magdelaine, Corinne
Bourthoumieu, Sylvie
Durand, Karine
Dzugan, Hélène
Feuillard, Jean
Sturtz, Franck
Mérillou, Stéphane
Lia, Anne-Sophie
CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer
title CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer
title_full CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer
title_fullStr CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer
title_full_unstemmed CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer
title_short CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer
title_sort covcopcan: an efficient tool to detect copy number variation from amplicon sequencing data in inherited diseases and cancer
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041855/
https://www.ncbi.nlm.nih.gov/pubmed/32049956
http://dx.doi.org/10.1371/journal.pcbi.1007503
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