Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewed
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery
Daniel Daniš, Michael J Bamshad, Yasemin Bridges…·Peter N. Robinson
The paper presents a large-scale corpus of standardized phenopackets for genomic diagnostics and discovery, curated from literature and useful for software testing and genotype-phenotype analysis.
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