Semantic Disease Gene Embeddings (SmuDGE): phenotype-based disease gene prioritization without phenotypes

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  "schema:name": "Semantic Disease Gene Embeddings (SmuDGE): phenotype-based disease gene prioritization without phenotypes",
  "schema:datePublished": 2018,
  "borg:venue": "Bioinformatics",
  "borg:bibKey": "smudge",
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  "borg:authorRaw": [
    "Alshahrani, Mona",
    "Hoehndorf, Robert"
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  "borg:keyword": [
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  "borg:tagRationale": "This paper introduces semantic disease gene embeddings for prioritization, which is a neuro-symbolic AI approach applied to rare disease diagnostic support.",
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Machine-readable copy: data.jsonld. Full dataset: kg.jsonld.