Cohort¶
This element describes a group of individuals related in some phenotypic or genotypic aspect. For instance, a cohort can consist of individuals all of whom have been diagnosed with a certain disease or have been found to have a certain phenotypic feature.
We recommend using the Family element to describe families being investigated for the presence of a Mendelian disease.
The GA4GH is in the process of creating a Computable Cohort Working Group to define how a cohort is generated. It is the intention that the results of this definition should be collected into a Cohort message.
Data model¶
| Field | Type | Multiplicity | Description |
|---|---|---|---|
| id | string | 1..1 | An arbitrary identifier for the cohort. REQUIRED |
| description | string | 0..1 | text description of the cohort |
| members | Phenopacket | 1..* | Phenopackets that represent members of the cohort. REQUIRED |
| files | File | 0..* | list of files related to the whole cohort, e.g. multi-sample high-throughput sequencing files |
| meta_data | MetaData | 1..1 | Metadata related to the ontologies and references used in this message. REQUIRED |
Explanations¶
id¶
The id is an identifier specific for this cohort. The syntax of the identifier is application specific.
description¶
Any information relevant to the study can be added here as free text.
members¶
One Phenopacket is included for each member of the cohort.
files¶
This element contains a list of pointers to relevant file(s) for the cohort. The file(s) MUST refer to the entire cohort. Otherwise
individual files MUST be contained within their appropriate scope. e.g. within a Phenopacket for germline samples of
an individual or within the scope of the Phenopacket.Biosample in the case of data derived from that biosample.
See File for further information.