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A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery

2024-05-29

Abstract excerpt

<h4>Summary</h4> The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical measurements, genetic information, diagnoses, and treatments. A phenopacket can be used as an input file for software that supports phenotype-driven genomic diagno...

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Literature Corpus work
c13fec69-aab7-51ad-8fd7-53dc3af47eb7
DOI
10.1101/2024.05.29.24308104
Open publication

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A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discoveryDOI 10.1101/2024.05.29.24308104
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