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

GPSEA is a software tool that uses the GA4GH Phenopacket Schema to streamline discovery of genotype-phenotype correlations (GPCs) in Mendelian diseases. Analyzing data from 85 cohorts of previously published individuals, it identified 253 significant GPCs, demonstrating the power of standardized clinical data for improving clinical management and disease understanding.