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  • desmo
    Member
    • Nov 2011
    • 25
    #1

    CNV detector for panel of target gene?

    Hi everyone,
    I'm working on ngs data produced bu ILLUMINA MySeq (panel of target genes)
    I'm searching some tools that perform CNV detection.
    I've been looking at CNVnator but it looks that it works good for genome data.
    Does anyone have any suggestion about it?
    I was just looking at this paper that looks like more focused on target genes:
    Accurate and exact CNV identification from targeted high-throughput sequence data - PMC
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3088570/
    Massively parallel sequencing of barcoded DNA samples significantly increases screening efficiency for clinically important genes. Short read aligners are well suited to single nucleotide and indel detection. However, methods for CNV detection from ...

    Does anyone read it and can give me some advice
    Thanks in advance for your help
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