Building Blocks and Schemas for GA4GH Implementations
The callset object contains information about an experiment performed on material from a single biosample and is a shared identifier for all variants detected in this experiment, attributed to the referenced biosample.
The schema definitions are done in the YAML file.
Property | Type | Format | Description |
---|---|---|---|
id | string | The local-unique identifier of this callset (referenced as "callset_id"). | |
biosample_id | string | The identifier ("biosample.id") of the biosample this variant was reported from. This is a shortcut to using the variant -> callset -> biosample chaining. | |
description | string | A free text description of the callset. | |
data_use_conditions | Data use conditions applying to data from this callset, as ontology object (e.g. DUO). | ||
geo_provenance | This geo_class attribute ideally describes the geographic location of where this callset was analysed. | ||
info | additional variant information, as defined in the example and accompanying documentation | ||
created | string | The creation time of this record, in ISO8601 | |
updated | string | The time of the last edit of this record, in ISO8601 |
The local-unique identifier of this callset (referenced as “callset_id”).
'id' : "GSM264198"
The identifier (“biosample.id”) of the biosample this variant was reported from. This is a shortcut to using the variant -> callset -> biosample chaining.
'biosample_id' : "pgx-bs-987647"
A free text description of the callset.
'description' : "SNP6 array of cancer sample BRCA-0893"
Data use conditions applying to data from this callset, as ontology object (e.g. DUO).
'data_use_conditions' : {
'label' : 'no restriction',
'id' : 'DUO:0000004'
}
This geo_class attribute ideally describes the geographic location of where this callset was analysed.
'geo_provenance' : {
'country' : 'Romania',
'city' : 'Timisoara',
'latitude' : 45.75,
'label' : 'Str Marasesti 5, 300077 Timisoara, Romania',
'longitude' : 21.23
}
additional variant information, as defined in the example and accompanying documentation
'info' : {
'statusmaps' : {
'value' : {
'dupmap' : {
'value' : [
'',
'',
'DUP',
'DUP',
'DUP',
'',
'',
'',
'',
'',
''
],
'type' : 'array',
'description' : 'gain cnv status for the corresponding genome intervals
'
},
'binning' : {
'type' : 'number',
'value' : 1000000,
'format' : 'int64',
'description' : 'interval size in bases for the binning, when creating the cnv_maps'
}
},
'schema' : {
'ref' : './common/Info_class'
},
'description' : 'The cnv_maps object is a wrapper for genomic interval mapped status information. In Progenetix and arrayMap, this is used to indictate - for fixed 1MB genome intervals - the status (dup_map => "DUP" or "", del_map => "DEL" or ""), or the maximum / minimum positive / negative value encountered in the segment, as far as it has been called to contain DUP or DEL.
With a standard binning of 1MB, the arrays would contain ~3000 values each (depending on genome edition).
'
}
}
The creation time of this record, in ISO8601
'created' : "2017-10-25T07:06:03Z"
The time of the last edit of this record, in ISO8601
'updated' : "2022-11-11T09:45:13Z"