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Article

The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

2021-11-30

Abstract excerpt

Despite great strides in the development and wide acceptance of standards for exchanging structured information about genomic variants, there is no corresponding standard for exchanging phenotypic data, and this has impeded the sharing of phenotypic information for computational analysis. Here, we introduce the Global Alliance for Genomics and Health (GA4GH) Phenopacket schema, which supports exchange of computabl...

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Literature Corpus work
6bf1ee6c-11aa-5952-a6d7-e5cc7f1b41cf
DOI
10.1101/2021.11.27.21266944
Open publication

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The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicineDOI 10.1101/2021.11.27.21266944
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