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

Autor: 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
Přispěvatelé: 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), Nizou, Angélique
Jazyk: angličtina
Rok vydání: 2020
Předmět:
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
Zdroj: PLoS Computational Biology, Vol 16, Iss 2, p e1007503 (2020)
PLoS Computational Biology
PLoS Computational Biology, Public Library of Science, 2020, 16 (2), pp.e1007503. ⟨10.1371/journal.pcbi.1007503⟩
PLoS Computational Biology, 2020, 16 (2), pp.e1007503. ⟨10.1371/journal.pcbi.1007503⟩
ISSN: 1553-7358
1553-734X
DOI: 10.1371/journal.pcbi.1007503⟩
Popis: 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.
Databáze: OpenAIRE
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