'COV'COP' allows to detect CNVs responsible for inherited diseases among amplicons sequencing data.
Where this comes from
- Record sourced from PubMed, PMID 28137711.
- Also identified by DOI 10.1093/bioinformatics/btx017.
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Abstract
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. https://git.unilim.fr/merilp02/CovCop. asliabaldini@unilim.fr. Supplementary data are available at Bioinformatics online.
Medical subject headings
- DNA Copy Number Variations
- DNA Mutational Analysis
- Software