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Phen-Gen: Combining Phenotype and Genotype to Analyze Rare Disorders

bioRxiv

Feb 26, 2015

Asif JavedPauline C Ng

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Abstract

We introduce Phen-Gen, a method which combines patient's disease symptoms and sequencing data with prior domain knowledge to identify the causative gene(s) for rare disorders. Simulations reveal that the causal variant is ranked first in 88% cases when it is coding; which is 52% advanta...read more

Mentioned in this Paper

Simulation
Gene Mutant
Phenotype Determination
Genes
Genotype Determination
Analysis
Etiology
Sequencing
D-Phen
6
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  • Phen-Gen: Combining Phenotype and Genotype to Analyze Rare Disorders

    bioRxiv

    Feb 26, 2015

    Asif JavedPauline C Ng

    PMID: 990015727

    DOI: 10.1101/015727

    Abstract

    We introduce Phen-Gen, a method which combines patient's disease symptoms and sequencing data with prior domain knowledge to identify the causative gene(s) for rare disorders. Simulations reveal that the causal variant is ranked first in 88% cases when it is coding; which is 52% advanta...read more

    Mentioned in this Paper

    Simulation
    Gene Mutant
    Phenotype Determination
    Genes
    Genotype Determination
    6

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