Ontology highlight
ABSTRACT: Motivation
The Beacon v2 specification, established by the Global Alliance for Genomics and Health (GA4GH), consists of a standardized framework and data models for genomic and phenotypic data discovery. By enabling secure, federated data sharing, it fosters interoperability across genomic resources. Progenetix, a Beacon v2 reference implementation, exemplifies its potential for large-scale genomic data integration, offering open access to genomic mutation data across diverse cancer types.Results
We present pgxRpi, an open-source R/Bioconductor package that provides a streamlined interface to the Progenetix Beacon v2 REST API, facilitating efficient and flexible genomic data retrieval. Beyond data access, pgxRpi offers integrated visualization and analysis fun
SUBMITTER: Zhao H
PROVIDER: S-EPMC12321294 | biostudies-literature | 2025
REPOSITORIES: biostudies-literature