ISO 4454:2022

Genomics informatics — Phenopackets: A format for phenotypic data exchange
Autor: ISO
Código ICS: 35.240.80


This document specifies a uniform, machine-readable, phenotypic description of an individual, patient or sample in the context of rare disease, common/complex disease or cancer.It is applicable to academic, clinical and commercial research, as well as clinical diagnostics. While intended for human data collection, it can be used in other areas (e.g. mouse research). It does not define the phenotypic information that needs to be collected for a particular use but represents that information in an appropriately descriptive manner that allows it to be computationally exchanged between systems.

Especificaciones de la Norma
Fecha de Publicación 07/07/2022
Título Secundario Titre manque
Páginas Técnicas 86
Idioma Inglés