DATOS-CAT: Leveraging ELIXIR ecosystem for the standardization, integration and federated analysis of population-based biomedical data
Creators: name: Martinez-Gonzalez, Judith
name: Sarrat-González, David
name: Mateo-Navarro, Ramon
name: Cucó, Guillem Bracons
name: Lymperidou, Aikaterini
name: Huertas, Marta
name: Aguiló-Castillo, Sergi
name: Capella-Gutiérrez, Salvador
name: De Cid, Rafael
name: Frid, Santiago
name: González, Juan R
name: Labarga, Alberto
Publisher: name: F1000 Research Limited
Year: 2024

description: In the context of personalized medicine, long-term data collection allows researchers to track how diseases progress over time, identify patterns of environmental and genetic risk, and assess the impact of different treatment strategies.<br>
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The <b>GCAT (Genomes for Life) cohort</b> is a groundbreaking initiative in Catalonia aimed at gathering comprehensive health and genetic information from a broad segment of the population. This initiative stands as a cornerstone of biomedical research in Europe, providing invaluable data that can drive forward our understanding of various diseases and contribute to the development of personalized medicine. The GCAT cohort has successfully recruited 20,000 participants aged between 40 and 65 years. Participants in the GCAT cohort have willingly provided a wealth of information, contributing to a vast repository of data that spans genetic, clinical, and lifestyle dimensions.<br>
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The project <b>DATOS-CAT</b> aims to increase the visibility and scientific impact of the GCAT cohort and to contribute to the development of procedures applicable to other cohorts, improving the level of interoperability of their data in the context of the <b>FAIR data ecosystem principles</b> (Findable, Accessible, Interoperable, Reusables) to facilitate their exploitation and scientific use.<br>
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A key aspect of the DATOS-CAT project is its use of existing technological infrastructures to manage and analyze the data. The <b>European Genome-Phenome Archive (EGA)</b> serves as the backbone for storing genomic data, while the <b>Observational Medical Outcomes Partnership Common Data Model (OMOP-CDM)</b> provides a standardized framework for working with structured clinical data. To tackle the challenge of sharing these data with the community regarding privacy concerns and data governance issues, ISGlobal developed dsOMOP, a <b>DataSHIELD</b> package that allows statistical analyses to be performed on individual-level data over an OMOP-CDM database, but without being transferred from their original location, i.e. federated non-disclosive analysis of healthcare data. The <b>GA4GH Beacon</b> project is also a key component of this framework, enabling the discovery of data sources that meet specific genomic or phenotypic criteria, with another specific development to query OMOP-CDM resources. These technologies not only ensure the robustness and reliability of the data but also enhance its interoperability, enabling seamless integration with other datasets and facilitating a wide range of research applications.<br>
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We expect this data resource will become an important element for the ELIXIR ecosystem to extend its reach facilitating the integration and publication under FAIR standards of clinical, environmental and genomic data, specially in the context of the Federated Human Data and its efforts towards a federated ecosystem of interoperable services that enables population scale biomedical data to be accessible across international borders, accelerating research, and improving the health of individuals resident across Europe.