Phenopacket Store
Phenopacket Store is a curated collection of GA4GH Phenopackets describing individuals with rare and Mendelian disease, assembled from the medical literature by the Monarch Initiative and GA4GH community. Each phenopacket captures a case's observed and excluded phenotypic features encoded with the Human Phenotype Ontology (HPO), along with the underlying genetic variants and disease diagnosis. The collection provides standardized, machine-readable case data used to power phenotype-driven analyses such as genotype-phenotype correlation studies and diagnostic tool benchmarking.
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