Pheno-Ranker: a toolkit for comparison of phenotypic data stored in GA4GH standards and beyond
Pheno-Ranker is a user-friendly, lightweight software for semantic similarity analysis of phenotypic data in Beacon v2 and Phenopackets v2 formats, extendable to other data types. It enables the comparison of a wide range of variables beyond HPO or OMIM terms while preserving full context. The software is designed as a command-line tool with additional utilities for CSV import, data simulation, summary statistics plotting, and QR code generation. For interactive analysis, it also includes a web-based user interface built with R Shiny. Links to the online documentation, including a Google Colab tutorial, and the tool's source code are available on the project home page: https://github.com/CNAG-Biomedical-Informatics/pheno-ranker .
Authors
- María Rivas-Torrubia (ORCID: https://orcid.org/0009-0006-6515-2947)
- Ivo C. Leist (ORCID: https://orcid.org/0000-0002-9772-443X)
- Manuel Rueda (ORCID: https://orcid.org/0000-0001-9280-058X)
- Guillermo Barturen (ORCID: https://orcid.org/0000-0003-2103-1028)
- Marta E. Alarcón‐Riquelme (ORCID: https://orcid.org/0000-0002-7632-4154)
- Ivo Glynne Gut (ORCID: https://orcid.org/0000-0001-7219-632X)
Institutions
- Universidad de Granada (ES)
- Karolinska Institutet (SE)
- Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research (ES)
- Centro Nacional de Análisis Genómico (ES)
- Parque Tecnológico de la Salud (ES)
- Universitat de Barcelona (ES)
Publication Details
- Journal
- BMC Bioinformatics
- Published
- 2024-12-04
- DOI
- https://doi.org/10.1186/s12859-024-05993-2
- Citations
- 4
- Primary Topic
- Bioinformatics and Genomic Networks
- Type
- article
- Field-Weighted Citation Impact
- 0.94
Funders
- European Federation of Pharmaceutical Industries and Associations
- European Commission
- Generalitat de Catalunya
- Ministerio de Ciencia e Innovación
- Instituto de Salud Carlos III
- European Regional Development Fund