Dataset Open Access

384 Phenopackets

Peter N Robinson


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  <identifier identifierType="DOI">10.5281/zenodo.3905420</identifier>
  <creators>
    <creator>
      <creatorName>Peter N Robinson</creatorName>
      <affiliation>The Jackson Laboratory</affiliation>
    </creator>
  </creators>
  <titles>
    <title>384 Phenopackets</title>
  </titles>
  <publisher>Zenodo</publisher>
  <publicationYear>2020</publicationYear>
  <subjects>
    <subject>Phenopacket, HPO, GA4GH</subject>
  </subjects>
  <contributors>
    <contributor contributorType="DataCurator">
      <contributorName>Courtney L. Thaxton</contributorName>
      <affiliation>Dept. of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA</affiliation>
    </contributor>
    <contributor contributorType="DataCollector">
      <contributorName>Peter N Robinson</contributorName>
      <affiliation>The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA</affiliation>
    </contributor>
  </contributors>
  <dates>
    <date dateType="Issued">2020-06-24</date>
  </dates>
  <language>en</language>
  <resourceType resourceTypeGeneral="Dataset"/>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://zenodo.org/record/3905420</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsVersionOf">10.5281/zenodo.3905419</relatedIdentifier>
    <relatedIdentifier relatedIdentifierType="URL" relationType="IsPartOf">https://zenodo.org/communities/bioinformatics</relatedIdentifier>
  </relatedIdentifiers>
  <version>1.0</version>
  <rightsList>
    <rights rightsURI="https://creativecommons.org/licenses/by/4.0/legalcode">Creative Commons Attribution 4.0 International</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="Abstract">&lt;p&gt;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.&lt;/p&gt;</description>
  </descriptions>
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