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

ABSTRACT:

Background

Phenotypic data comparison is essential for disease association studies, patient stratification, and genotype-phenotype correlation analysis. To support these efforts, the Global Alliance for Genomics and Health (GA4GH) established Phenopackets v2 and Beacon v2 standards for storing, sharing, and discovering genomic and phenotypic data. These standards provide a consistent framework for organizing biological data, simplifying their transformation into computer-friendly formats. However, matching participants using GA4GH-based formats remains challenging, as current methods are not fully compatible, limiting their effectiveness.

Results

Here, we introduce Pheno-Ranker, an open-source software toolkit for individual-level comparison of phenotypic data. As input, it

SUBMITTER: Leist IC 

PROVIDER: S-EPMC11616229 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature