The primary documents are in the yaml directory, with JSON versions and examples extracted from them. The "readable" documentation is also created from the YAML files and can be accessed here:
- common object classes, which are used in the schemas themselves
variantobject includes attributes and examples for both structural (DUP, DEL, BRK) and precise genome variants.
callsetobject is for technoical data and series information (e.g. used platform and analysis metods). It is not strictly needed for querying combined variant + biosample aspects, since in the current implementation the
variantobject contains a reference to the
biosampleit was derived from.
Most relevant "bio"data (such as diagnoses, phenotypes ...) is stored in the
individualobject contains information which pertains to the whole biological entity biosamples are derived from (e.g. sex, heritable phenotypes...).