Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

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  "schema:name": "Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project",
  "schema:datePublished": 2024,
  "borg:venue": "Human Genomics",
  "schema:identifier": "10.1186/s40246-024-00604-w",
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    "Stenton, Sarah L.",
    "O’Leary, Melanie C.",
    "Lemire, Gabrielle",
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    "DiTroia, Stephanie",
    "Ganesh, Vijay S.",
    "Groopman, Emily",
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    "Mangilog, Brian",
    "Osei-Owusu, Ikeoluwa",
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    "Serrano, Jillian",
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    "Carta, Maria Giulia",
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    "Coenen, Pieter-Jan",
    "De Paoli, Federica",
    "Floris, Matteo",
    "Gajapathy, Manavalan",
    "Hoehndorf, Robert",
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    "Rao, Aditya",
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    "Savojardo, Castrense",
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    "Fullerton, Stephanie M.",
    "Radivojac, Predrag",
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    "O’Donnell-Luria, Anne"
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Machine-readable copy: data.jsonld. Full dataset: kg.jsonld.