phenopackets-v2

Here are 8 public repositories matching this topic...

CNAG-Biomedical-Informatics / convert-pheno

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

Updated May 10, 2025
Perl

CNAG-Biomedical-Informatics / pheno-ranker

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.

yaml json bioinformatics csv genomics qrcode vcf biomedical-informatics semantic-similarity ehr ga4gh data-exploration health-data bff semantic-similarity-measures pxf beacon-v2 phenopackets-v2 cnag

Updated Jun 20, 2025
Perl

BIH-CEI / ERKER2Phenopackets

Star

A pipeline of ERKER data into the phenopackets data structure.

pipeline rare-diseases phenopackets-v2

Updated Jan 28, 2025
Python

BIH-CEI / rarelink

Star

RareLink - A REDCap-based framework linking international registries toFHIR and Phenopackets

interoperability fhir redcap phenopackets-v2 rarediseases

Updated Jun 3, 2025
HTML

CNAG-Biomedical-Informatics / beacon2-cbi-tools

Star

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

json browser mongodb vcf microarray snp beacon data-exchange 23andme bff pxf beacon-v2 beacon-friendly-format phenopackets-v2 beacon2-ri-tools cnag beacon2-ri beacon2-reference-implementation bff-portal

Updated May 29, 2025
Perl

CNAG-Biomedical-Informatics / pheno-ranker-ui

Star

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

json r shiny semantic-similarity data-exploration clinical-data semantic-similarity-measures beacon-v2 phenopackets-v2

Updated Jun 15, 2025
R

mrueda / pheno-lens

Star

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

elasticsearch natural-language-processing kibana phenotype kibana-visualization clinical-data phenotypic-data beacon-v2 phenopackets-v2 beacon2-ri-tools pheno-lens pheno-search pheno-ranker

Updated Mar 1, 2024

mrueda / pheno-search

Star

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

search elasticsearch json phenotype clinical-data beacon-v2 phenopackets-v2 beacon2-ri-tools pheno-lens pheno-search convert-pheno

Updated Mar 1, 2024
Python

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phenopackets-v2

Here are 8 public repositories matching this topic...

CNAG-Biomedical-Informatics / convert-pheno

CNAG-Biomedical-Informatics / pheno-ranker

BIH-CEI / ERKER2Phenopackets

BIH-CEI / rarelink

CNAG-Biomedical-Informatics / beacon2-cbi-tools

CNAG-Biomedical-Informatics / pheno-ranker-ui

mrueda / pheno-lens

mrueda / pheno-search

Improve this page

Add this topic to your repo