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GA4GH Phenopackets: A Practical Introduction.

Published version
Peer-reviewed

Type

Article

Change log

Authors

Ladewig, Markus S 
Jacobsen, Julius OB 
Wagner, Alex H 
Danis, Daniel 
El Kassaby, Baha 

Abstract

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 to use the schema to represent the clinical course of a patient with retinoblastoma, including demographic information, the clinical diagnosis, phenotypic features and clinical measurements, an examination of the extirpated tumor, therapies, and the results of genomic analysis. The Phenopacket Schema, together with other GA4GH data and technical standards, will enable data exchange and provide a foundation for the computational analysis of disease and phenotype information to improve our ability to diagnose and conduct research on all types of disorders, including cancer and rare diseases.

Description

Keywords

FAIR data, Global Alliance for Genomics and Health, Human Phenotype Ontology, Phenopacket Schema, deep phenotyping

Journal Title

Adv Genet (Hoboken)

Conference Name

Journal ISSN

2641-6573
2641-6573

Volume Title

Publisher

Wiley
Sponsorship
Alan Turing Institute (Unknown)
The Alan Turing Institute