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

Repo for the ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets

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

RareLink - A REDCap-based framework linking international registries to FHIR and Phenopackets

A pipeline of ERKER data into the phenopackets data structure.

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

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

Visualize and Perform Data Analytics on Phenotypic and Clinical Data Stored in GA4GH Standards and Beyond

Streamlined Searching in GA4GH-Standard Phenotypic and Clinical Data Repositories and Beyond