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GA4GH Phenopackets: A Practical Introduction

25 Aug 2022

Abstract excerpt

The Global Alliance for Genomics and Health (GA4GH) is developing a suite of coordinated standards for genomics for healthcare. The Phenopacket is a new GA4GH standard for sharing disease and phenotype information that characterizes an individual person, linking that individual to detailed phenotypic descriptions, genetic information, diagnoses, and treatments. A detailed example is presented that illustrates how...

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PMID: 36910590
DOI: 10.1002/ggn2.202200016

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