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@CNAG-Biomedical-Informatics

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  1. CNAG-Biomedical-Informatics/convert-pheno CNAG-Biomedical-Informatics/convert-pheno Public

    A software toolkit for the interconversion of standard data models for phenotypic data

    Perl 9 1

  2. CNAG-Biomedical-Informatics/pheno-ranker CNAG-Biomedical-Informatics/pheno-ranker Public

    Pheno-Ranker is a tool for comparing phenotypic data structured in JSON/YAML format, such as Beacon v2 Models or Phenopackets v2.

    Perl 4 1

  3. beacon2-ri-tools beacon2-ri-tools Public

    Forked from EGA-archive/beacon2-ri-tools

    Beacon v2 Reference Implementation (Data ingestion tools) - Actively maintained by the original author

    Perl 1

  4. CNAG-Biomedical-Informatics/pheno-ranker-app CNAG-Biomedical-Informatics/pheno-ranker-app Public

    A standalone desktop application for phenotype ranking using the Pheno-Ranker tool, built with Python and CustomTkinter.

    Python 1

  5. ga4gh-beacon/B2RI_Documentation ga4gh-beacon/B2RI_Documentation Public

    Documentation for the Beacon v2 Reference Implementation

    2 3

  6. EGA_inferred_genome_ref EGA_inferred_genome_ref Public

    Script to infer the reference genome from a VCF

    Shell 2