GA4GH Phenopackets: A practical introduction
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Authors
Ladewig, Michael
Jacobsen, Julius
Wagner, Alex
Danis, Daniel
ElKassaby, Baha
Gargano, Michael
Groza, Tudor
Baudis, Michael
Steinhaus, Robin
Seelow, Dominik
Bechrakis, Nikolaus
Mungall, Christopher
Elemento, Olivier
Smith, Lindsay
McMurry, Julie
Munoz-Torres, Monica
Haendel, Melissa
Robinson, Peter
Journal Title
Advanced Genetics
Type
Article
This Version
AM
Metadata
Show full item recordCitation
Schofield, P., Ladewig, M., Jacobsen, J., Wagner, A., Danis, D., ElKassaby, B., Gargano, M., et al. GA4GH Phenopackets: A practical introduction. Advanced Genetics https://doi.org/10.17863/CAM.86093
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)
Embargo Lift Date
2025-07-01
Identifiers
This record's DOI: https://doi.org/10.17863/CAM.86093
This record's URL: https://www.repository.cam.ac.uk/handle/1810/338680
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