Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewed
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders
Lauren Rekerle, Daniel Danis, Filip Rehburg…·Peter N. Robinson
The paper introduces GPSEA, a tool using GA4GH Phenopackets to analyze genotype-phenotype correlations in Mendelian disorders, identifying 225 significant associations across 85 cohorts.
DOI 10.1016/j.ajhg.2025.12.001