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A Semantic Model of Genetic Evidence: A Step Toward Bridging the Basic-Science-Clinic Gap

Bouzinier, Michael et al.
arXiv (All) · Papers
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databasesgenomics
Scientific and clinical decision-making depends on evidence from the primary literature, but existing standards for representing that evidence (FHIR Evidence, ECO, SEPIO, and the GA4GH Genomic Knowledge Standards) are oriented toward clinical-trial workflows, evidence codes, or single-variant assert
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