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🧬 CNAG Biomedical Informatics

Building trustworthy computational infrastructure for biomedical discovery.

CNAG Biomedical Informatics is a research software laboratory within CNAG's Biomedical Genomics Group. We develop open-source infrastructure that connects genomic, phenotypic, clinical, and imaging data with reproducible analysis and trustworthy AI.

CNAG Biomedical Informatics research software ecosystem

🌐 What We Build

Each project solves a focused problem while contributing to a shared biomedical research platform. Project names open their documentation.

🔄 Data Interoperability

🧬 Analysis, Metadata & Identifiers

  • Pheno-Ranker compares and ranks interoperable phenotypic profiles.
  • ClarID-Tools generates and validates schema-driven biomedical identifiers.

🏥 Quality Control & Genomic Workflows

  • dicomqc audits DICOM metadata de-identification and research-release readiness.
  • CBIcall runs configuration-driven genomic variant-calling workflows.

🗄️ Research Data Platforms

🚀 Emerging Platform

Biomedical Research Navigator is a clinical and assay workspace for translational research teams, under active development. It brings authorized datasets, cohort building, phenotype ranking, and curated analyses into a provenance-aware environment, with policy-controlled access to approved local or cloud language models.

🧭 How We Work

  • Standards first. Established biomedical standards and transparent data models are shared interfaces across the toolkit.
  • Reproducible by default. Structured configuration and reusable workflows make analyses easier to inspect and repeat.
  • Built to last. We invest in maintainable infrastructure rather than isolated prototypes.
  • Open for reuse. Our software and documentation are developed in the open.

🌍 Research Context

Our work grows through the ELIXIR community and European collaborations in interoperable biomedical data, federated analytics, translational informatics, and precision medicine, including 3TR, HEREDITARY, and PRECISESADS.

📚 Selected Publications

Our goal is practical: help researchers spend less time integrating data and more time answering biological and clinical questions.

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  1. convert-pheno-ui convert-pheno-ui Public

    The web UI for Convert-Pheno, a software toolkit for the interconversion of standard data models for phenotypic data

    FreeMarker 5 1

  2. pheno-ranker-ui pheno-ranker-ui Public

    The web ui (R-Shiny application) for Pheno-Ranker, a tool designed for performing semantic similarity analysis on phenotypic data structured in JSON format, such as Beacon v2 Models or Phenopackets v2

    R 2

  3. beacon2-cbi-tools beacon2-cbi-tools Public

    Beacon v2 - CNAG Biomedical Informatics - Tools (Data ingestion tools)

    Python 3

  4. clarid-tools clarid-tools Public

    ClarID: A Human-Readable and Compact Identifier Specification for Biomedical Metadata Integration

    Perl 2

  5. cbicall cbicall Public

    CBIcall is a configuration-driven framework for reproducible variant calling in large sequencing cohorts, enabling standardized pipelines from FASTQ to analysis-ready VCFs across heterogeneous comp…

    Python 2

Repositories

Showing 10 of 17 repositories

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