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

• Published in: PLoS computational biology Vol. 16; no. 2; p. e1007503
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 12.02.2020; PLOS; Public Library of Science (PLoS)
• Subjects: Algorithms; Bioengineering; Biology and Life Sciences; Cancer; Cancer cells; Cancer patients; Cancer therapies; Chromosomes; Computational Biology; Computer and Information Sciences; Copy number; Data visualization; Diseases; DNA Copy Number Variations; Genetic Diseases, Inborn - genetics; Genetics; Hereditary diseases; High-Throughput Nucleotide Sequencing; Human genetics; Humans; Ibrutinib; Life Sciences; Mutation; Neoplasms - genetics; Next-generation sequencing; Nucleic Acid Amplification Techniques - methods; Pathology, Molecular - methods; Patient care; Patients; Physical Sciences; Quantitative Methods; Sequences; Software; Statistical methods; Tafamidis; France; Limoges France
• ISSN: 1553-7358; 1553-734X; 1553-7358
• DOI: 10.1371/journal.pcbi.1007503

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.