GA4GH Phenopackets: A Practical Introduction.
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ABSTRACT:
SUBMITTER: Ladewig MS
PROVIDER: S-EPMC10000265 | biostudies-literature | 2023 Mar
REPOSITORIES: biostudies-literature
Publications
GA4GH Phenopackets: A Practical Introduction.
Ladewig Markus S MS Jacobsen Julius O B JOB Wagner Alex H AH Danis Daniel D El Kassaby Baha B Gargano Michael M Groza Tudor T Baudis Michael M Steinhaus Robin R Seelow Dominik D Bechrakis Nikolaos E NE Mungall Christopher J CJ Schofield Paul N PN Elemento Olivier O Smith Lindsay L McMurry Julie A JA Munoz-Torres Monica M Haendel Melissa A MA Robinson Peter N PN
Advanced genetics (Hoboken, N.J.) 20220825 1
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 ...[more]
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