BioMetadata: Biosample Object

Biosample in the GA4GH Schema

The majority of use cases of GA4GH schema compatible resources will serve to facilitate the retrieval of molecular features (DNA sequence variations, gene expression, protein variants) measured by performing experimental (whole genome sequencing, expression arrays, mass spectroscopy) in conjunction with bioinformatics procedures, applied to a preparation of target molecules (e.g. DNA, RNA) which has been extracted from a biological sample (e.g. tissue biopsy, single cell from FACS, environmental sample).

In the GA4GH schema, a Biosample represents the main “biological item” against which molecular variants are referenced.

Biosample attributes

Attribute	Notes
id	the Biosample’s id unique in the context of the server used for referencing this Biosample
name	a human readable object label/identifier not to be used for referencing
description	additional, unstructured information about this Biosample
disease	OntologyTerm annotating the disease of the sample
individualId	the id of the Individual this Biosample was derived from
created	the time the record was created, in ISO8601
updated	the time the record was updated, in ISO8601
attributes	additional, structured information

BioMetadata: Individual Object

Individual in the GA4GH Schema

An Individual is a GA4GH data object representing a biological instance (most commonly a human being or other individual organism) on whose Biosamples experimental analyses are performed.

Individual attributes

Attribute	Notes
id	the Individual’s id unique in the context of the server used for referencing this Individual
name	a human readable object label/identifier not to be used for referencing
description	additional, unstructured information about this Individual
species	OntologyTerm representing the species (NCBITaxon:9606)
sex	OntologyTerm for the genetic sex of this individual.
created	the time the record was created, in ISO8601
updated	the time the record was updated, in ISO8601
attributes	additional, structured information