Phenotype-driven discovery of digenic variants in personal genome sequences

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  "schema:name": "Phenotype-driven discovery of digenic variants in personal genome sequences",
  "schema:datePublished": 2017,
  "borg:venue": "Proceedings of VarI-SIG",
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  "borg:authorRaw": [
    "Imane Boudellioua",
    "Maxat Kulmanov",
    "Paul N Schofield",
    "Georgios V Gkoutos",
    "Robert Hoehndorf"
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  "borg:tagRationale": "This paper focuses on phenotype-driven discovery of digenic variants in personal genome sequences, directly supporting rare disease diagnostics and involving genomics and phenotype informatics.",
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Machine-readable copy: data.jsonld. Full dataset: kg.jsonld.