About us
Learn how GA4GH helps expand responsible genomic data use to benefit human health.
Phenopackets
Offers a human and machine-readable way to structure clinical and phenotypic data about a patient or individual
Healthcare systems capture vital clinical information, such as a patient’s disease symptoms, observable characteristics, and demographic data. Improving patient care and clinical outcomes rely on the ability to standardise and share this information, along with corresponding genomic data. Developed by the GA4GH Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, the Phenopackets standard provides a human and machine-readable way to structure phenotypic and clinical information about a patient or individual.
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Benefits
- Provides a format for creating computable representations of phenotypic and clinical data
- Works with other GA4GH standards, such as the Variation Representation Standard, for representing genetic variation data
- Works interoperably with community standards such as HL7 FHIR
Target users
Researchers, clinicians, clinical laboratories, and developers
Image summary: Phenopackets help researchers and clinicians exchange phenotypic data in a standard way to accelerate research and improve patient care.
THEME
CATEGORY
TYPE
STATUS
Work Stream
LATEST VERSION
Product Leads
- Melissa Haendel
- Monica Munoz-Torres
- Peter Robinson
- Jules Jacobsen
Staff Contact
Tools & Platforms
Publications
Community resources
Dive deeper into this product! Increasing the volume of computable phenotypic data across a diversity of systems can enable clinicians, biologists, and disease and drug researchers to build more complete models of disease. Phenopackets contain a set of mandatory and optional fields to share information about a patient or participant’s phenotype, such as clinical diagnosis, age of onset, results from lab tests, and disease severity. Phenopackets are also able to link to a separate file containing a patient’s genetic sequence, if available. Initially built for rare disease use cases, version 2.0 of the standard expands upon its utility by enabling better representation of cancer and common diseases.
Date
Version
24 Jun 2021
23 Oct 2019
Date
Title
15 Dec 2023
14 Sep 2023
30 Mar 2023
11 Mar 2023
Canadian Distributed Infrastructure for Genomics (CanDIG)
European Joint Programme on Rare Disease (EJP RD)
European Genome-phenome Archive (EGA)
ELIXIR Beacon
EpiShare
Monarch Initiative
Don't see your name? Get in touch:
- Michael Baudis
University of Zurich - Jacqui Beckmann
Université de Lausanne - Sergi Beltran
CNAG CRG - David Bujold
McGill University / Université McGill - Orion Buske
PhenoTips - Chritopher Chute
Johns Hopkins University School of Medicine - Mélanie Courtot
Ontario Institute for Cancer Research (OICR) - Shahim Essaid
University of Colorado Anschutz Medical Campus - Mallory Freeberg
EMBL's European Bioinformatics Institute (EBI) - Robert Freimuth
Mayo Clinic - Ian Green
SNOMED International - Tudor Groza
EMBL's European Bioinformatics Institute (EBI) - Melissa Haendel
University of Colorado Anschutz Medical Campus - Allison Heath
Children's Hospital of Philadelphia - Arthur Hermann
Kaiser Permanente - Jules Jacobsen
Queen Mary University of London - Sebastian Koehler
Ada Health - Adriana Malheiro
NIH National Center for Biotechnology Information (NCBI) - Monica Munoz-Torres
University of Colorado Anschutz Medical Campus - Sabine Oesterle
SIB Swiss Institute of Bioinformatics - Soichi Ogishima
Tohoku University Tohoku, Medical Megabank Organization - Helen Parkinson
EMBL's European Bioinformatics Institute (EBI) - Peter Robinson
The Jackson Laboratory - Babita Singh
Centre for Genomic Regulation - Dylan Spalding
CSC – IT CENTER FOR SCIENCE - Susheel Varma
Information Commissioner's Office - Grant Wood
MyGenomeTrust - Christina Yung
Ontario Institute for Cancer Research (OICR), Indoc Research - Ksenia Zaytseva
Canadian Centre for Computational Genomics, McGill University / Université McGill
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