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CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinic

bioRxiv

Mar 20, 2015

Márton MünzNazneen Rahman

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Abstract

Background: Next-generation sequencing (NGS) offers unprecedented opportunities to expand clinical genomics. It also presents challenges with respect to integration with data from other sequencing methods and historical data. Provision of consistent, clinically applicable variant annota...read more

Mentioned in this Paper

BRCA2 Protein
TAPBP protein, human
Evaluation
BRCA1 Protein
Protein Isoforms
Gene Mutant
Genome Sequencing
Clinical Trials
Left
BRCA2 gene
8
1
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  • CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinic

    bioRxiv

    Mar 20, 2015

    Márton MünzNazneen Rahman

    PMID: 990016808

    DOI: 10.1101/016808

    Abstract

    Background: Next-generation sequencing (NGS) offers unprecedented opportunities to expand clinical genomics. It also presents challenges with respect to integration with data from other sequencing methods and historical data. Provision of consistent, clinically applicable variant annota...read more

    Mentioned in this Paper

    BRCA2 Protein
    TAPBP protein, human
    Evaluation
    BRCA1 Protein
    Protein Isoforms
    8
    1

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