Background Reading
To prepare for the workshop, we recommend reading the following foundational publications. These papers track the evolution of the HPO from its inception to its current role as a global standard.
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The Original HPO Article
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.
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Phenopacket Schema
The GA4GH Phenopacket schema defines a computable representation of clinical data
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Exomiser
Next-generation diagnostics and disease-gene discovery with the Exomiser
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GPSEA
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders
More information about the HPO
Vist the HPO Documentation site for detailed information about many of the topics we will discuss in the workshop.
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