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Bioinformatics ; 33(10): 1586-1588, 2017 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-28137711

RESUMO

SUMMARY: In order to help molecular geneticists to rapidly identify CNVs responsible for inherited diseases among amplicons sequencing data generated by NGS, we designed a user-friendly tool ' Cov'Cop '. Using the run's coverage file provided by the sequencer, Cov'Cop simultaneously analyzes all the patients of the run using a two-stage algorithm containing correction and normalization levels and provides an easily understandable output, showing with various colors, potentially deleted and duplicated amplicons. AVAILABILITY AND IMPLEMENTATION: https://git.unilim.fr/merilp02/CovCop. CONTACT: asliabaldini@unilim.fr. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.


Assuntos
Variações do Número de Cópias de DNA , Análise Mutacional de DNA/métodos , Software , Algoritmos , Doenças Genéticas Inatas/genética , Humanos
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