Document Type
Article
Publication Date
3-1-2023
Original Citation
Ladewig M,
Jacobsen J,
Wagner A,
Danis D,
El Kassaby B,
Gargano M,
Groza T,
Baudis M,
Steinhaus R,
Seelow D,
Bechrakis N,
Mungall C,
Schofield P,
Elemento O,
Smith L,
McMurry J,
Munoz-Torres M,
Haendel M,
Robinson P.
GA4GH Phenopackets: A Practical Introduction. Adv Genet (Hoboken). 2023;4(1):2200016
Keywords
JGM
JAX Source
Adv Genet (Hoboken). 2023;4(1):2200016
ISSN
2641-6573
PMID
36910590
DOI
https://doi.org/10.1002/ggn2.202200016
Grant
NIH NHGRI RM1HG010860, NIH NHGRI 1R01HG011799-01, NIH OD R24OD011883, NIH NICHD 1R01HD103805-01, NIH NLM contract #75N97019P00280. Support was provided by EU Horizon 2020 research and innovation programme grant agreement 779257 (SOLVE-RD). P.N.S. acknowledges the support of the Alan Turing Institute.
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.
Comments
This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.