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MeHelmy/princess: v1.0

Medhat Mahmoud; Fritz Sedlazeck


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  <identifier identifierType="DOI">10.5281/zenodo.5272109</identifier>
  <creators>
    <creator>
      <creatorName>Medhat Mahmoud</creatorName>
      <nameIdentifier nameIdentifierScheme="ORCID" schemeURI="http://orcid.org/">0000-0002-2553-4231</nameIdentifier>
      <affiliation>Baylor College of Medicine</affiliation>
    </creator>
    <creator>
      <creatorName>Fritz Sedlazeck</creatorName>
      <nameIdentifier nameIdentifierScheme="ORCID" schemeURI="http://orcid.org/">0000-0001-6040-2691</nameIdentifier>
      <affiliation>Baylor College of Medicine</affiliation>
    </creator>
  </creators>
  <titles>
    <title>MeHelmy/princess: v1.0</title>
  </titles>
  <publisher>Zenodo</publisher>
  <publicationYear>2021</publicationYear>
  <subjects>
    <subject>SVs</subject>
    <subject>SNVs</subject>
    <subject>indels</subject>
    <subject>methylation</subject>
    <subject>phasing</subject>
    <subject>mapping</subject>
  </subjects>
  <dates>
    <date dateType="Issued">2021-08-26</date>
  </dates>
  <resourceType resourceTypeGeneral="Software"/>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://zenodo.org/record/5272109</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="URL" relationType="IsSupplementTo">https://github.com/MeHelmy/princess/tree/v1.0</relatedIdentifier>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsVersionOf">10.5281/zenodo.5272108</relatedIdentifier>
  </relatedIdentifiers>
  <version>v1.0</version>
  <rightsList>
    <rights rightsURI="https://github.com/awsdocs/aws-cloud9-user-guide/blob/master/LICENSE-SAMPLECODE">MIT No Attribution</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="Abstract">&lt;p&gt;PRINCESS is a structured workflow that takes raw sequence reads and generates a fully phased SNV, SV, and methylation call set within a few hours. PRINCESS achieves high accuracy and long phasing even on low coverage datasets and can resolve repetitive, complex medical relevant genes that often escape detection.&lt;/p&gt;</description>
  </descriptions>
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