Work

Variant annotation in RDF for clinical trials matching

Year: 2026

Type: preprint

Abstract: Precision oncology depends on semantic, interoperable representations of genomic variants (GV)—particularly structural variants (SVs)—to match patients with clinical trials. In this exploratory project, we investigated the use of RDF and the GA4GH VRS Schema to standardize variant annotations and integrate them with clinical trial data. Our work, developed in collaboration with the Pangenome Graphs and Platform for Precision Medicine groups, prototypes an RDF-based data harmonization that paves the way for improved semantic interoperability in precision medicine, especially for cancer research and AI-driven discovery.

DOI: 10.37044/osf.io/2hbqf_v1

Authors: Núria Queralt-Rosinach, Toshiaki Katayama, Jose Emilio Labra-Gayo, Claude Nanjo

Language: English

Topic: Biomedical Text Mining and Ontologies

Subfield: Health Informatics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W7202031147

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