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Pheno-Ranker

Pheno-Ranker: a toolkit for comparison of phenotypic data stored in GA4GH standards and beyond

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🖥️ Desktop · 📘 Documentation · Video Tutorials · 💻 CLI Installation · 📖 CLI Usage · 📓 Google Colab · 📦 CPAN · 🐳 Docker

Pheno-Ranker

Pheno-Ranker compares phenotypic, clinical, and other categorical records. It supports Beacon Friendly Format (BFF), Phenopackets (PXF), and generic JSON data, using Hamming distance or Jaccard similarity to compare cohorts or rank reference records against a target patient.

Use Pheno-Ranker

The Desktop app, introduced in v1.09, provides guided setup, local analysis, and interactive results, including patient alignments, MDS/UMAP plots, and networks. Companion tools support CSV import, record simulation, phenotype summaries, QR codes, and PDF reports.

The CLI remains available for scripts, R/Python automation, and batch analyses. Desktop and CLI use the same analysis engine; CPAN distributes the CLI independently.

Similarity results support research and exploration, not clinical diagnosis.

Citation

If you use Pheno-Ranker in published work, please cite:

Leist, I.C. et al. (2024). Pheno-Ranker: a toolkit for comparison of phenotypic data stored in GA4GH standards and beyond. BMC Bioinformatics. https://doi.org/10.1186/s12859-024-05993-2

Author and License

Manuel Rueda, PhD. CNAG.

Pheno-Ranker is distributed under the Artistic License 2.0. Third-party components and datasets retain their own licensing terms.

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