Publication

Semantic prioritization of novel causative genomic variants

This IRI: https://leechuck.de/kg-browser/id/pub/pvp-main
owl:sameAs https://borg.kaust.edu.sa/kg/pub/pvp-main · rdf:type schema:ScholarlyArticle

Venue
PLOS Computational Biology
Published
2017
Type
article
Keywords
genomic variants, variant prioritization, semantic similarity, Human Phenotype Ontology, HPO, disease gene prioritization

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  "schema:identifier": "10.1371/journal.pcbi.1005500",
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    "Boudellioua, Imane",
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    "Kulmanov, Maxat",
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    "Goncalves-Serra, Eva",
    "Schoenmakers, Nadia",
    "Gkoutos, Georgios V.",
    "Schofield, Paul N.",
    "Hoehndorf, Robert"
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Machine-readable copy: data.jsonld. Full dataset: kg.jsonld.