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

A three-panel comic demonstrating how Phenopackets aims to enable the electronic sharing of phenotypic data
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

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.


Title

Info

Repeat

Day

Time

Duration

Working meeting for the development of the GA4GH Phenopackets product, including discussion of implementations and support tooling

ad hoc
ad hoc
UTC
1 Hour

Date

Version

24 Jun 2021
23 Oct 2019

Title

Related Driver Projects and Organisations

Canadian Distributed Infrastructure for Genomics (CanDIG)
European Joint Programme on Rare Disease (EJP RD)
ELIXIR Beacon
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

News, events, and more

Catch up with all news and articles associated with Phenopackets.

2 Aug 2022
First GA4GH standard published by ISO will reshape how doctors and researchers share phenotypic information
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Phenopackets v2.0
2 Feb 2022
Phenopackets v2.0 expands utility to provide a more complete medical picture
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8 Jul 2021
GA4GH standards in a global learning health system
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