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Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders

bioRxiv

Oct 4, 2014

Robert A BrownBogdan Pasaniuc

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Abstract

Recent breakthroughs in exome sequencing technology have made possible the identification of many causal variants of monogenic disorders. Although extremely powerful when closely related individuals (e.g. child and parents) are simultaneously sequenced, exome sequencing of individual on...read more

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Validation
Simulation
Structure
Size
Genetic Structures
Follow-up
Whole Exome Sequencing
Exome
Alleles
Sequencing
7
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  • Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders

    bioRxiv

    Oct 4, 2014

    Robert A BrownBogdan Pasaniuc

    PMID: 990010017

    DOI: 10.1101/010017

    Abstract

    Recent breakthroughs in exome sequencing technology have made possible the identification of many causal variants of monogenic disorders. Although extremely powerful when closely related individuals (e.g. child and parents) are simultaneously sequenced, exome sequencing of individual on...read more

    Mentioned in this Paper

    Validation
    Simulation
    Structure
    Size
    Genetic Structures
    7

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