Genomic Knowledge Standards (GKS) genomicsandhealth.org Genomic - - PowerPoint PPT Presentation

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Genomic Knowledge Standards (GKS) genomicsandhealth.org Genomic - - PowerPoint PPT Presentation

Nov 27, 2023 167 likes •224 views

Genomic Knowledge Standards (GKS) genomicsandhealth.org Genomic Knowledge Standards GKS aims to develop, adopt, and adapt standards to enable the exchange of genomic knowledge Establish framework of standards that lower barriers to

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genomicsandhealth.org

Genomic Knowledge Standards (GKS)

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genomicsandhealth.org

Genomic Knowledge Standards

GKS aims to develop, adopt, and adapt standards to enable the exchange of genomic knowledge

  • Establish framework of standards that lower barriers to

transla=ng genomic knowledge into clinical prac=ce

  • Reusing exis=ng knowledge is essen=al to future impact
  • Knowledge repositories are a key component
  • Collaborate with other SDOs on harmonized specifica=ons
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genomicsandhealth.org

Genomic Knowledge Standards

Variant Representa=on

  • Simple (VMC): 1.0 by Q4 2018, peer-reviewed publica=on
  • Complex (structural, CNV, imprecise ends): 0.1 by Q4 2018

Variant Interpreta=on

  • Structured, curated data from publica=ons
  • Clinical relevance, disease associa=on
  • DraT spec by Q4 2018

Engagement: 4 DPs, Work Streams TBD

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genomicsandhealth.org

Genomic Knowledge Standards

Q&A