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

European Journal of Human Genetics : EJHG

Jan 1, 2016

Robert Joseph 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 (eg, child and parents) are simultaneously sequenced, sequencing of a single case is oft...read more

Mentioned in this Paper

Genome, Human
Human Genetics
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Racial Group
Two-Parameter Models
Variation (Genetics)
Structure
Simulation
Single Nucleotide Polymorphism
Sequence Determinations, DNA
15
1
18
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  • Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders

    European Journal of Human Genetics : EJHG

    Jan 1, 2016

    Robert Joseph BrownBogdan Pasaniuc

    PMID: 25898925

    DOI: 10.1038/ejhg.2015.68

    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 (eg, child and parents) are simultaneously sequenced, sequencing of a single case is oft...read more

    Mentioned in this Paper

    Genome, Human
    Human Genetics
    Congenital, Hereditary, and Neonatal Diseases and Abnormalities
    Racial Group
    Two-Parameter Models
    15
    1
    18

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