Dataset Open Access

384 Phenopackets

Peter N Robinson


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{
  "inLanguage": {
    "alternateName": "eng", 
    "@type": "Language", 
    "name": "English"
  }, 
  "description": "<p>GA4GH Phenopackets (https://github.com/phenopackets/phenopacket-schema) representing 384 individuals described in published case reports with Human Phenotype Ontology terms and causal genetic variants.</p>", 
  "license": "https://creativecommons.org/licenses/by/4.0/legalcode", 
  "creator": [
    {
      "affiliation": "The Jackson Laboratory", 
      "@type": "Person", 
      "name": "Peter N Robinson"
    }
  ], 
  "url": "https://zenodo.org/record/3905420", 
  "datePublished": "2020-06-24", 
  "keywords": [
    "Phenopacket, HPO, GA4GH"
  ], 
  "version": "1.0", 
  "contributor": [
    {
      "affiliation": "Dept. of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA", 
      "@type": "Person", 
      "name": "Courtney L. Thaxton"
    }, 
    {
      "affiliation": "The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA", 
      "@type": "Person", 
      "name": "Peter N Robinson"
    }
  ], 
  "@context": "https://schema.org/", 
  "distribution": [
    {
      "contentUrl": "https://zenodo.org/api/files/e7efc011-92d8-447c-80cb-16c4f5322f03/phenopackets.zip", 
      "encodingFormat": "zip", 
      "@type": "DataDownload"
    }
  ], 
  "identifier": "https://doi.org/10.5281/zenodo.3905420", 
  "@id": "https://doi.org/10.5281/zenodo.3905420", 
  "@type": "Dataset", 
  "name": "384 Phenopackets"
}
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