OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants

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  "schema:name": "OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants",
  "schema:datePublished": 2018,
  "borg:venue": "Scientific Reports",
  "borg:bibKey": "oligopvp",
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  "borg:authorRaw": [
    "Boudellioua, Imane",
    "Kulmanov, Maxat",
    "Schofield, Paul N",
    "Gkoutos, Georgios V",
    "Hoehndorf, Robert"
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  "borg:tagRationale": "This paper introduces OligoPVP for phenotype-driven prioritization of oligogenic disease variants, a key aspect of rare disease diagnostic support and genomics.",
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Machine-readable copy: data.jsonld. Full dataset: kg.jsonld.