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Start Over Author "Paco Derouault" Journal plos computational biology
2 results on '"Paco Derouault"'

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

Author

Paco Derouault, Jasmine Chauzeix, David Rizzo, Federica Miressi, Corinne Magdelaine, Sylvie Bourthoumieu, Karine Durand, Hélène Dzugan, Jean Feuillard, Franck Sturtz, Stéphane Mérillou, and Anne-Sophie Lia

Subjects
Biology (General), QH301-705.5
Abstract

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.

Published
2020
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2. CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer

Author

David Rizzo, Jean Feuillard, Jasmine Chauzeix, Anne-Sophie Lia, Corinne Magdelaine, Federica Miressi, Karine Durand, Paco Derouault, Franck Sturtz, Stéphane Mérillou, Hélène Dzugan, Sylvie Bourthoumieu, UF de Bioinformatique, CHU de Limoges, Hôpital Dupuytren [CHU Limoges], Service d'Hématologie biologique [CHU Limoges], CHU Limoges, Contrôle de la Réponse Immune B et des Lymphoproliférations (CRIBL), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Maintenance Myélinique et Neuropathies Périphériques (MMNP), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Service de Biochimie et Génétique Moléculaire [CHU Limoges], Service d'Histologie, cytologie, cytogénétique, biologie cellulaire [CHU Limoges], Service d'Anatomie Pathologique [CHU Limoges], Contrôle de l’Activation Cellulaire, Progression Tumorale et Résistance thérapeutique (CAPTuR), XLIM (XLIM), Université de Limoges (UNILIM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), and Nizou, Angélique

Subjects
0301 basic medicine, [SDV]Life Sciences [q-bio], Infographics, 0302 clinical medicine, Neoplasms, Copy-number variation, Pathology, Molecular, Biology (General), X chromosome, Sex Chromosomes, Ecology, Chromosome Biology, Chromosomal Deletions, Physics, High-Throughput Nucleotide Sequencing, X Chromosomes, Genomics, Charts, Copy Number Variation, 3. Good health, Cancer treatment, Chromosomal Aberrations, [SDV] Life Sciences [q-bio], Deletion Mutation, Computational Theory and Mathematics, Modeling and Simulation, Physical Sciences, Amplicon sequencing, Chromosomal Duplications, Protons, Nucleic Acid Amplification Techniques, Algorithms, Research Article, Computer and Information Sciences, DNA Copy Number Variations, QH301-705.5, Computational biology, Biology, Genome Complexity, DNA sequencing, Patient care, Chromosomes, 03 medical and health sciences, Cellular and Molecular Neuroscience, medicine, Genetics, Humans, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Nuclear Physics, Nucleons, Data Visualization, Genetic Diseases, Inborn, Cancer, Computational Biology, Biology and Life Sciences, Cell Biology, medicine.disease, 030104 developmental biology, Deletion mutation, Mutation, 030217 neurology & neurosurgery
Abstract

International audience; 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.

Published
2020

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