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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Publicado en:PLoS Comput Biol
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: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2020
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7041855/
https://ncbi.nlm.nih.gov/pubmed/32049956
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pcbi.1007503
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