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

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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

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 • 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 • 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 genomicsandhealth.org
Genomic Knowledge Standards Q&A genomicsandhealth.org

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