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Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization

bioRxiv

Apr 2, 2018

Karthik A. JagadeeshGill Bejerano

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Abstract

Purpose: Exome sequencing and diagnosis is beginning to spread across the medical establishment. The most time-consuming part of genome based diagnosis is the manual step of matching the potentially long list of patient candidate genes to patient phenotypes to identify the causative dis...read more

Mentioned in this Paper

Genome
Phenotype Determination
Genes
Anatomical Space Structure
Gene Therapy
Whole Exome Sequencing
Genetic Markers
Exome
Sequencing
Candidate Disease Gene
10
5
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  • Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization

    bioRxiv

    Apr 2, 2018

    Karthik A. JagadeeshGill Bejerano

    PMID: 990225854

    DOI: 10.1101/225854

    Abstract

    Purpose: Exome sequencing and diagnosis is beginning to spread across the medical establishment. The most time-consuming part of genome based diagnosis is the manual step of matching the potentially long list of patient candidate genes to patient phenotypes to identify the causative dis...read more

    Mentioned in this Paper

    Genome
    Phenotype Determination
    Genes
    Anatomical Space Structure
    Gene Therapy
    10
    5

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