Starvar: symptom-based tool for automatic ranking of variants using evidence from literature and genomes

{
  "@context": {
    "schema": "https://schema.org/",
    "foaf": "http://xmlns.com/foaf/0.1/",
    "prov": "http://www.w3.org/ns/prov#",
    "dct": "http://purl.org/dc/terms/",
    "borg": "https://borg.kaust.edu.sa/kg/ns/",
    "borg-id": "https://borg.kaust.edu.sa/kg/",
    "owl": "http://www.w3.org/2002/07/owl#"
  },
  "@id": "https://leechuck.de/kg-browser/id/pub/Kafkas2023",
  "@type": "schema:ScholarlyArticle",
  "owl:sameAs": {
    "@id": "https://borg.kaust.edu.sa/kg/pub/Kafkas2023"
  },
  "borg:acknowledges": [
    {
      "@id": "https://leechuck.de/kg-browser/id/grant/ccf-algorithms-biotech-biomedical"
    },
    {
      "@id": "https://leechuck.de/kg-browser/id/grant/crg-ibnsina-qi"
    },
    {
      "@id": "https://leechuck.de/kg-browser/id/grant/crg-functional-metagenomics"
    }
  ],
  "borg:fromProject": [
    {
      "@id": "https://leechuck.de/kg-browser/id/project/ccf-algorithms-biotech-biomedical"
    },
    {
      "@id": "https://leechuck.de/kg-browser/id/project/crg-ibnsina-qi"
    },
    {
      "@id": "https://leechuck.de/kg-browser/id/project/crg-functional-metagenomics"
    }
  ],
  "schema:name": "Starvar: symptom-based tool for automatic ranking of variants using evidence from literature and genomes",
  "schema:datePublished": 2023,
  "borg:venue": "BMC Bioinformatics",
  "schema:identifier": "10.1186/s12859-023-05406-w",
  "schema:url": "https://doi.org/10.1186/s12859-023-05406-w",
  "borg:bibKey": "Kafkas2023",
  "borg:bibType": "article",
  "borg:authorRaw": [
    "Senay Kafkas",
    "Marwa Abdelhakim",
    "Mahmut Uludag",
    "Azza Althagafi",
    "Malak Alghamdi",
    "Robert Hoehndorf"
  ],
  "schema:author": [
    {
      "@id": "https://leechuck.de/kg-browser/id/person/azza-althagafi"
    },
    {
      "@id": "https://leechuck.de/kg-browser/id/person/robert-hoehndorf"
    }
  ],
  "borg:keyword": [
    "Starvar",
    "symptom-based ranking",
    "variant prioritization",
    "literature evidence",
    "genomic evidence",
    "rare disease"
  ],
  "borg:tagRationale": "This paper describes Starvar, a tool for symptom-based variant prioritization in rare diseases, integrating evidence from literature and genomes.",
  "borg:topic": [
    {
      "@id": "https://leechuck.de/kg-browser/id/topic/rare-disease-diagnostic-support"
    },
    {
      "@id": "https://leechuck.de/kg-browser/id/topic/biomedical-informatics"
    }
  ],
  "schema:sameAs": "https://doi.org/10.1186/s12859-023-05406-w"
}

Machine-readable copy: data.jsonld. Full dataset: kg.jsonld.