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Accurate detection of de novo and transmitted INDELs within exome-capture data using micro-assembly

bioRxiv

Dec 13, 2013

Giuseppe NarzisiMichael C. Schatz

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Abstract

We present a new open-source algorithm, Scalpel, for sensitive and specific discovery of INDELs in exome-capture data. By combining the power of mapping and assembly, Scalpel carefully searches the de Bruijn graph for sequence paths that span each exon. A detailed repeat analysis couple...read more

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Scalpel
Simulation
Posterior Semilunar Lobule
Simple Lobule of Cerebellum
Molecular Assembly/Self Assembly
Simplex styrene-methylmethacrylate
Genes
Whole Exome Sequencing
INDEL Mutation
Exons
43
8
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  • Accurate detection of de novo and transmitted INDELs within exome-capture data using micro-assembly

    bioRxiv

    Dec 13, 2013

    Giuseppe NarzisiMichael C. Schatz

    PMID: 990001370

    DOI: 10.1101/001370

    Abstract

    We present a new open-source algorithm, Scalpel, for sensitive and specific discovery of INDELs in exome-capture data. By combining the power of mapping and assembly, Scalpel carefully searches the de Bruijn graph for sequence paths that span each exon. A detailed repeat analysis couple...read more

    Mentioned in this Paper

    Scalpel
    Simulation
    Posterior Semilunar Lobule
    Simple Lobule of Cerebellum
    Molecular Assembly/Self Assembly
    43
    8
    Paper Details
    References
    • References
    • Citations

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