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CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing

PLoS Computational Biology

Apr 1, 2016

Eric TalevichBoris C. Bastian

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Abstract

Germline copy number variants (CNVs) and somatic copy number alterations (SCNAs) are of significant importance in syndromic conditions and cancer. Massively parallel sequencing is increasingly used to infer copy number information from variations in the read depth in sequencing data. Ho...read more

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  • CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing

    PLoS Computational Biology

    Apr 1, 2016

    Eric TalevichBoris C. Bastian

    PMID: 27100738

    DOI: 10.1371/journal.pcbi.1004873

    Abstract

    Germline copy number variants (CNVs) and somatic copy number alterations (SCNAs) are of significant importance in syndromic conditions and cancer. Massively parallel sequencing is increasingly used to infer copy number information from variations in the read depth in sequencing data. Ho...read more

    28
    383

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