GA4GH Phenopackets: A Practical Introduction
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Authors
Ladewig, Markus S
Jacobsen, Julius OB
Wagner, Alex H
Danis, Daniel
El Kassaby, Baha
Gargano, Michael
Groza, Tudor
Baudis, Michael
Steinhaus, Robin
Seelow, Dominik
Bechrakis, Nikolaos E
Mungall, Christopher J
Schofield, Paul N
Elemento, Olivier
Smith, Lindsay
McMurry, Julie A
Munoz‐Torres, Monica
Haendel, Melissa A
Journal Title
Advanced Genetics
ISSN
2641-6573
Publisher
Wiley
Type
Article
This Version
VoR
Metadata
Show full item recordCitation
Ladewig, M. S., Jacobsen, J. O., Wagner, A. H., Danis, D., El Kassaby, B., Gargano, M., Groza, T., et al. (2022). GA4GH Phenopackets: A Practical Introduction. Advanced Genetics https://doi.org/10.1002/ggn2.202200016
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 or biosample, linking that individual to detailed phenotypic descriptions, genetic information, diagnoses, and treatments. We present a detailed example 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.
Sponsorship
The Alan Turing Institute
Funder references
Alan Turing Institute (Unknown)
Identifiers
External DOI: https://doi.org/10.1002/ggn2.202200016
This record's URL: https://www.repository.cam.ac.uk/handle/1810/338680
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