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bioRxiv · 10.64898/2026.02.09.702490

A methodological framework for accommodating Cancer Genomics Information in OMOP-CDM using Variation Representation Specification (VRS).

Benetti, E.·Scicolone, G.·Tajwar, M.·Masciullo, C.·Bucci, G.·Riba, M.
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Abstract

The OMOP Common Data Model (OMOP CDM) in which observational health data are organized and stored is a broadly accepted data standard which helps clinical research facilitating federation study protocols. In case of cancer studies, there is a growing need to incorporate cancer genomics data in a standardized way. Starting from a brief overview of the basic features of the OMOP CDM, we imagine a path of increasing complexity for including known biomarker genomic data coming from pathology or reports or clinical laboratory findings, towards storing thousands of known and unknown variants coming from genome sequencing data. Data should be stored using standardized identifiers, including those defined by the Global Alliance for Genomics and Health (GA4GH). We propose a scalable strategy for storing genomics variants in increasingly complex scenarios and present KOIOS-VRS, a pipeline that automates the conversion of VCF files into OMOP compatible format.

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Benetti, E., Scicolone, G., Tajwar, M., Masciullo, C., Bucci, G., Riba, M.. 2026-02-10. A methodological framework for accommodating Cancer Genomics Information in OMOP-CDM using Variation Representation Specification (VRS).. https://doi.org/10.64898/2026.02.09.702490

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