GA4GH Phenopackets: A Practical Introduction.
FAIR data
Global Alliance for Genomics and Health
Human Phenotype Ontology
Phenopacket Schema
deep phenotyping
Journal
Advanced genetics (Hoboken, N.J.)
ISSN: 2641-6573
Titre abrégé: Adv Genet (Hoboken)
Pays: United States
ID NLM: 101774320
Informations de publication
Date de publication:
Mar 2023
Mar 2023
Historique:
received:
28
04
2022
revised:
30
06
2022
entrez:
13
3
2023
pubmed:
14
3
2023
medline:
14
3
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36910590
doi: 10.1002/ggn2.202200016
pii: GGN2202200016
pmc: PMC10000265
doi:
Types de publication
Journal Article
Langues
eng
Pagination
2200016Subventions
Organisme : NHGRI NIH HHS
ID : R35 HG011949
Pays : United States
Organisme : NHGRI NIH HHS
ID : RM1 HG010860
Pays : United States
Informations de copyright
© 2022 The Authors. Advanced Genetics published by Wiley Periodicals LLC.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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