GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.

ABSTRACT: Comprehensively characterizing genotype-phenotype correlations (GPCs) in Mendelian disease would create new opportunities for improving clinical management and understanding disease biology. However, heterogeneous approaches to data sharing, reuse, and analysis have hindered progress in the field. We developed Genotype-Phenotype Statistical Evaluation of Associations (GPSEA), a software package that leverages the Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema to represent case-level clinical and genetic data about individuals. GPSEA applies an independent filtering strategy to boost statistical power to detect categorical GPCs represented by Human Phenotype Ontology terms. GPSEA additionally enables visualization and analysis of continuous phenotypes, clinical severity

SUBMITTER: Rekerle L 

PROVIDER: S-EPMC12824607 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature