Description
GA4GH Phenopackets (https://github.com/phenopackets/phenopacket-schema) representing 384 individuals described in published case reports with Human Phenotype Ontology terms and causal genetic variants.
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Metrics Over Time
Publication Details
Subfield
Molecular Biology
Field
Biochemistry, Genetics and Molecular Biology
Domain
Life Sciences
Confidence Score
40%
Source
Scholar Data Model
Keywords
Phenopacket, HPO, GA4GH