arXiv AI By Michael Bouzinier, Dmitry Etin

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

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The article presents a new semantic model for representing scientific evidence, specifically tailored to genetics, that extends existing standards by adding fine‑grained, domain‑specific structure. It aligns with FHIR Evidence and SEPIO, incorporates a compact vocabulary validated by SHACL, and was tested in a human‑AI annotation pilot on six genetics papers, producing 28 evidence items and 95 source‑anchored assertions. The authors argue that this model advances trustworthy, AI‑ready infrastructure for variant interpretation by providing a reference data model and validation schema for genetic evidence.

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arXiv Computation and Language
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arXiv AI
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Building evidence-based knowledge bases from full-text literature for disease-specific biomedical reasoning

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