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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Détails bibliographiques
Publié dans:PLoS Comput Biol
Auteurs principaux: 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: Artigo
Langue:Inglês
Publié: Public Library of Science 2020
Sujets:
Research Article
Accès en ligne: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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