+1 888 608-7511
Need help finding a standard?
Help Desk
Genomics informatics - Phenopackets: A format for phenotypic data exchange
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.
Failed to load document history.
| Publish Date | Document Id | Type | View |
|---|