A Semantic Model of Genetic Evidence: A Step Toward Bridging the Basic-Science-Clinic Gap
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 assertions, and do not capture the fine-grained, domain-specific structure of claims in basic and pre-clinical research. We introduce a semantic model for scientific evidence with three core classes, specialize it for genetics, align it structurally to FHIR Evidence with a SEPIO-anchored credibility decomposition, and attach a compact dimensional vocabulary whose conditional-activation rules are vali...
| Authors | Michael Bouzinier, Dmitry Etin |
|---|---|
| Primary category | cs.DB |
| Published | 3 September 2026 |
| Last updated at source | 3 September 2026 |
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