Variation Descriptor¶
Computational Definition
This descriptor class is used for describing VRS Variation value objects.
Information Model
Some VariationDescriptor attributes are inherited from Value Object Descriptor.
Field |
Type |
Limits |
Description |
---|---|---|---|
id |
1..1 |
Descriptor ID; MUST be unique within document. |
|
type |
string |
1..1 |
MUST be “VariationDescriptor”. |
label |
string |
0..1 |
A primary label for the value object. |
description |
string |
0..1 |
A free-text description of the value object. |
xrefs |
0..m |
List of CURIEs representing associated concepts. |
|
alternate_labels |
string |
0..m |
List of strings representing alternate labels for the value object. |
extensions |
0..m |
List of resource-specific Extensions needed to describe the value object. |
|
variation_id |
0..1 |
This SHOULD be provided if variation is omitted. |
|
variation |
0..1 |
This SHOULD be provided if variation_id is omitted. |
|
molecule_context |
string |
0..1 |
The molecular context of this variant. Must be one of “genomic”, “transcript”, or “protein”. |
structural_type |
0..1 |
The structural variant type associated with this variant. We RECOMMEND a descendent term of SO:0001537. |
|
expressions |
0..1 |
Typically HGVS or ISCN nomenclature expressions. Other systems relevant to the description of variation MAY be used. |
|
vcf_record |
0..1 |
A VCF Record of the variant. This SHOULD be a single allele, the VCF genotype (GT) field should be represented in the allelic_state attribute. |
|
gene_context |
0..1 |
A specific gene context that applies to this variant. |
|
vrs_ref_allele_seq |
0..1 |
A VRS Sequence corresponding to a “ref allele”, describing the sequence expected at a VRS SequenceLocation reference. |
|
allelic_state |
0..1 |
We RECOMMEND that the allelic_state of a variation be described by terms from the Genotype Ontology (GENO). These SHOULD descend from concept GENO:0000875 <http://purl.obolibrary.org/obo/GENO_0000875>. |
Location Descriptor¶
This descriptor is intended to reference VRS Location value objects. In addition to the attributes inherited from its Value Object Descriptor parent class, the Sequence Location Descriptor has the following attributes:
Field |
Type |
Limits |
Description |
---|---|---|---|
type |
string |
1..1 |
MUST be “LocationDescriptor” |
location_id |
0..1 |
This MUST be provided if location is omitted |
|
location |
0..1 |
This MUST be provided if location_id is omitted |
Sequence Descriptor¶
This descriptor is intended to reference VRS Sequence value objects. In addition to the attributes inherited from its Value Object Descriptor parent class, the Sequence Descriptor has the following attributes:
Field |
Type |
Limits |
Description |
---|---|---|---|
type |
string |
1..1 |
MUST be “SequenceDescriptor” |
sequence_id |
0..1 |
This MUST be provided if sequence is omitted |
|
sequence |
0..1 |
This MUST be provided if sequence_id is omitted |
|
residue_type |
0..1 |
CURIE MUST be SO:0000348 (nucleic acid), SO:0001407 (peptidyl), or a descendent of one of these concepts. |
Gene Descriptor¶
This descriptor is intended to reference VRS Gene value objects. In addition to the attributes inherited from its Value Object Descriptor parent class, the Gene Descriptor has the following attributes:
Field |
Type |
Limits |
Description |
---|---|---|---|
type |
string |
1..1 |
MUST be “GeneDescriptor” |
gene_id |
0..1 |
This MUST be provided if gene is omitted |
|
gene |
0..1 |
This MUST be provided if gene_id is omitted |
Categorical Variation Descriptor¶
Computational Definition
This descriptor class is used for describing Categorical Variation value objects.
Information Model
Some CategoricalVariationDescriptor attributes are inherited from Value Object Descriptor.
Field |
Type |
Limits |
Description |
---|---|---|---|
id |
1..1 |
Descriptor ID; MUST be unique within document. |
|
type |
string |
1..1 |
MUST be “VariationDescriptor”. |
label |
string |
0..1 |
A primary label for the value object. |
description |
string |
0..1 |
A free-text description of the value object. |
xrefs |
0..m |
List of CURIEs representing associated concepts. |
|
alternate_labels |
string |
0..m |
List of strings representing alternate labels for the value object. |
extensions |
0..m |
List of resource-specific Extensions needed to describe the value object. |
|
version |
string |
0..1 |
The version of the Categorical Variation Descriptor. |
categorical_variation_id |
0..1 |
This SHOULD be provided if categorical_variation is omitted. |
|
categorical_variation |
0..1 |
This SHOULD be provided if variation_id is omitted. |
|
members |
0..m |
VariationMember instances that fall within the functional domain of the Categorical Variation. |