Phenopacket-tools: Building and validating GA4GH Phenopackets.
The Global Alliance for Genomics and Health (GA4GH) is a standards-setting organization that is developing a suite of coordinated standards for genomics. The GA4GH Phenopacket Schema is a standard for sharing disease and phenotype information that characterizes an individual person or biosample. The...
Main Authors: | Daniel Danis, Julius O B Jacobsen, Alex H Wagner, Tudor Groza, Martha A Beckwith, Lauren Rekerle, Leigh C Carmody, Justin Reese, Harshad Hegde, Markus S Ladewig, Berthold Seitz, Monica Munoz-Torres, Nomi L Harris, Jordi Rambla, Michael Baudis, Christopher J Mungall, Melissa A Haendel, Peter N Robinson |
---|---|
Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2023-01-01
|
Series: | PLoS ONE |
Online Access: | https://doi.org/10.1371/journal.pone.0285433 |
Similar Items
-
GA4GH Phenopackets: A Practical Introduction
by: Markus S. Ladewig, et al.
Published: (2023-03-01) -
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery
by: Daniel Danis, et al.
Published: (2025-01-01) -
An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets
by: Adam S. L. Graefe, et al.
Published: (2025-02-01) -
An evaluation of GPT models for phenotype concept recognition
by: Tudor Groza, et al.
Published: (2024-01-01) -
International federation of genomic medicine databases using GA4GH standards
by: Adrian Thorogood, et al.
Published: (2021-11-01)