Class: VariantToPopulationAssociation
Description: An association between a variant and a population, where the variant has particular frequency in the population
classDiagram
class VariantToPopulationAssociation
VariantToEntityAssociationMixin <|-- VariantToPopulationAssociation
FrequencyQuantifier <|-- VariantToPopulationAssociation
FrequencyQualifierMixin <|-- VariantToPopulationAssociation
Association <|-- VariantToPopulationAssociation
VariantToPopulationAssociation : adjusted_p_value
VariantToPopulationAssociation : agent_type
VariantToPopulationAssociation --|> AgentTypeEnum : agent_type
VariantToPopulationAssociation : aggregator_knowledge_source
VariantToPopulationAssociation : category
VariantToPopulationAssociation : deprecated
VariantToPopulationAssociation : description
VariantToPopulationAssociation : frequency_qualifier
VariantToPopulationAssociation : has_attribute
VariantToPopulationAssociation --|> Attribute : has_attribute
VariantToPopulationAssociation : has_count
VariantToPopulationAssociation : has_evidence
VariantToPopulationAssociation --|> EvidenceType : has_evidence
VariantToPopulationAssociation : has_percentage
VariantToPopulationAssociation : has_quotient
VariantToPopulationAssociation : has_supporting_studies
VariantToPopulationAssociation --|> Study : has_supporting_studies
VariantToPopulationAssociation : has_total
VariantToPopulationAssociation : id
VariantToPopulationAssociation : iri
VariantToPopulationAssociation : knowledge_level
VariantToPopulationAssociation --|> KnowledgeLevelEnum : knowledge_level
VariantToPopulationAssociation : knowledge_source
VariantToPopulationAssociation : name
VariantToPopulationAssociation : negated
VariantToPopulationAssociation : object
VariantToPopulationAssociation --|> PopulationOfIndividualOrganisms : object
VariantToPopulationAssociation : object_category
VariantToPopulationAssociation --|> OntologyClass : object_category
VariantToPopulationAssociation : object_category_closure
VariantToPopulationAssociation --|> OntologyClass : object_category_closure
VariantToPopulationAssociation : object_closure
VariantToPopulationAssociation : object_label_closure
VariantToPopulationAssociation : object_namespace
VariantToPopulationAssociation : original_object
VariantToPopulationAssociation : original_predicate
VariantToPopulationAssociation : original_subject
VariantToPopulationAssociation : p_value
VariantToPopulationAssociation : predicate
VariantToPopulationAssociation : primary_knowledge_source
VariantToPopulationAssociation : publications
VariantToPopulationAssociation --|> Publication : publications
VariantToPopulationAssociation : qualifier
VariantToPopulationAssociation : qualifiers
VariantToPopulationAssociation --|> OntologyClass : qualifiers
VariantToPopulationAssociation : retrieval_source_ids
VariantToPopulationAssociation --|> RetrievalSource : retrieval_source_ids
VariantToPopulationAssociation : subject
VariantToPopulationAssociation --|> SequenceVariant : subject
VariantToPopulationAssociation : subject_category
VariantToPopulationAssociation --|> OntologyClass : subject_category
VariantToPopulationAssociation : subject_category_closure
VariantToPopulationAssociation --|> OntologyClass : subject_category_closure
VariantToPopulationAssociation : subject_closure
VariantToPopulationAssociation : subject_label_closure
VariantToPopulationAssociation : subject_namespace
VariantToPopulationAssociation : timepoint
VariantToPopulationAssociation : type
Inheritance
- Entity
- Association
- VariantToPopulationAssociation [ VariantToEntityAssociationMixin FrequencyQuantifier FrequencyQualifierMixin]
- Association
Slots
Name | Cardinality and Range | Inheritance | Examples |
---|---|---|---|
subject: an allele that has a certain frequency in a given population |
1 SequenceVariant |
FrequencyQualifierMixin, VariantToEntityAssociationMixin, Association | NC_000017.11:g.43051071A>T |
predicate: A high-level grouping for the relationship type. AKA minimal predicate. This is analogous to category for nodes. |
1 PredicateType |
FrequencyQualifierMixin, VariantToEntityAssociationMixin, Association | |
object: the population that is observed to have the frequency |
1 PopulationOfIndividualOrganisms |
FrequencyQualifierMixin, VariantToEntityAssociationMixin, Association | HANCESTRO:0010 |
has_count: number in object population that carry a particular allele, aka allele count |
0..1 Integer |
FrequencyQuantifier | 4 |
has_total: number all populations that carry a particular allele, aka allele number |
0..1 Integer |
FrequencyQuantifier | 24014 |
has_quotient: frequency of allele in population, expressed as a number with allele divided by number in reference population, aka allele frequency |
0..1 Double |
FrequencyQuantifier | 0.0001666 |
has_percentage: equivalent to has quotient multiplied by 100 |
0..1 Double |
FrequencyQuantifier | |
frequency_qualifier: a qualifier used in a phenotypic association to state how frequent the phenotype is observed in the subject |
0..1 FrequencyValue |
FrequencyQualifierMixin | |
negated: if set to true, then the association is negated i.e. is not true |
0..1 Boolean |
Association | |
qualifier: grouping slot for all qualifiers on an edge. useful for testing compliance with association classes |
0..1 String |
Association | |
qualifiers: connects an association to qualifiers that modify or qualify the meaning of that association |
* OntologyClass |
Association | |
publications: One or more publications that report the statement expressed in an Association, or provide information used as evidence supporting this statement. |
* Publication |
Association | |
has_evidence: connects an association to an instance of supporting evidence |
* EvidenceType |
Association | |
knowledge_source: An Information Resource from which the knowledge expressed in an Association was retrieved, directly or indirectly. This can be any resource through which the knowledge passed on its way to its currently serialized form. In practice, implementers should use one of the more specific subtypes of this generic property. |
0..1 String |
Association | |
primary_knowledge_source: The most upstream source of the knowledge expressed in an Association that an implementer can identify. Performing a rigorous analysis of upstream data providers is expected; every effort is made to catalog the most upstream source of data in this property. Only one data source should be declared primary in any association. "aggregator knowledge source" can be used to capture non-primary sources. |
0..1 String |
Association | |
aggregator_knowledge_source: An intermediate aggregator resource from which knowledge expressed in an Association was retrieved downstream of the original source, on its path to its current serialized form. |
* String |
Association | |
knowledge_level: Describes the level of knowledge expressed in a statement, based on the reasoning or analysis methods used to generate the statement, or the scope or specificity of what the statement expresses to be true. |
1 KnowledgeLevelEnum |
Association | knowledge_assertion, prediction, statistical_association |
agent_type: Describes the high-level category of agent who originally generated a statement of knowledge or other type of information. |
1 AgentTypeEnum |
Association | manual_agent, automated_agent, computational_model, text_mining_agent |
timepoint: a point in time |
0..1 TimeType |
Association | |
original_subject: used to hold the original subject of a relation (or predicate) that an external knowledge source uses before transformation to match the biolink-model specification. |
0..1 String |
Association | |
original_predicate: used to hold the original relation/predicate that an external knowledge source uses before transformation to match the biolink-model specification. |
0..1 Uriorcurie |
Association | |
original_object: used to hold the original object of a relation (or predicate) that an external knowledge source uses before transformation to match the biolink-model specification. |
0..1 String |
Association | |
subject_category: Used to hold the biolink class/category of an association. This is a denormalized field used primarily in the SQL serialization of a knowledge graph via KGX. |
0..1 OntologyClass |
Association | biolink:Gene |
object_category: Used to hold the biolink class/category of an association. This is a denormalized field used primarily in the SQL serialization of a knowledge graph via KGX. |
0..1 OntologyClass |
Association | biolink:Disease |
subject_closure: Used to hold the subject closure of an association. This is a denormalized field used primarily in the SQL serialization of a knowledge graph via KGX. |
* String |
Association | |
object_closure: Used to hold the object closure of an association. This is a denormalized field used primarily in the SQL serialization of a knowledge graph via KGX. |
* String |
Association | ['MONDO:0000167', 'MONDO:0005395'] |
subject_category_closure: Used to hold the subject category closure of an association. This is a denormalized field used primarily in the SQL serialization of a knowledge graph via KGX. |
* OntologyClass |
Association | ['biolink:Gene", "biolink:NamedThing'] |
object_category_closure: Used to hold the object category closure of an association. This is a denormalized field used primarily in the SQL serialization of a knowledge graph via KGX. |
* OntologyClass |
Association | ['biolink:Disease", "biolink:NamedThing'] |
subject_namespace: Used to hold the subject namespace of an association. This is a denormalized field used primarily in the SQL serialization of a knowledge graph via KGX. |
0..1 String |
Association | NCBIGene |
object_namespace: Used to hold the object namespace of an association. This is a denormalized field used primarily in the SQL serialization of a knowledge graph via KGX. |
0..1 String |
Association | MONDO |
subject_label_closure: Used to hold the subject label closure of an association. This is a denormalized field used primarily in the SQL serialization of a knowledge graph via KGX. |
* String |
Association | ['BRACA1'] |
object_label_closure: Used to hold the object label closure of an association. This is a denormalized field used primarily in the SQL serialization of a knowledge graph via KGX. |
* String |
Association | breast cancer, cancer |
retrieval_source_ids: A list of retrieval sources that served as a source of knowledge expressed in an Edge, or a source of data used to generate this knowledge. |
* RetrievalSource |
Association | |
p_value: A quantitative confidence value that represents the probability of obtaining a result at least as extreme as that actually obtained, assuming that the actual value was the result of chance alone. |
0..1 Float |
Association | |
adjusted_p_value: The adjusted p-value is the probability of obtaining test results at least as extreme as the results actually observed, under the assumption that the null hypothesis is correct, adjusted for multiple comparisons. P is always italicized and capitalized. The actual P value* should be expressed (P=. 04) rather than expressing a statement of inequality (P<. 05), unless P<. |
0..1 Float |
Association | |
has_supporting_studies: A study that produced information used as evidence to generate the knowledge expressed in an Association. |
* Study |
Association | |
id: A unique identifier for an entity. Must be either a CURIE shorthand for a URI or a complete URI |
1 String |
Entity | |
iri: An IRI for an entity. This is determined by the id using expansion rules. |
0..1 IriType |
Entity | |
category: Name of the high level ontology class in which this entity is categorized. Corresponds to the label for the biolink entity type class. In a neo4j database this MAY correspond to the neo4j label tag. In an RDF database it should be a biolink model class URI. This field is multi-valued. It should include values for ancestors of the biolink class; for example, a protein such as Shh would have category values biolink:Protein , biolink:GeneProduct , biolink:MolecularEntity . In an RDF database, nodes will typically have an rdf:type triples. This can be to the most specific biolink class, or potentially to a class more specific than something in biolink. For example, a sequence feature f may have a rdf:type assertion to a SO class such as TF_binding_site, which is more specific than anything in biolink. Here we would have categories {biolink:GenomicEntity, biolink:MolecularEntity, biolink:NamedThing} |
* Uriorcurie |
Entity | |
type: rdf:type of biolink:Association should be fixed at rdf:Statement |
* String |
Entity | |
name: A human-readable name for an attribute or entity. |
0..1 LabelType |
Entity | |
description: a human-readable description of an entity |
0..1 NarrativeText |
Entity | |
has_attribute: connects any entity to an attribute |
* Attribute |
Entity | |
deprecated: A boolean flag indicating that an entity is no longer considered current or valid. |
0..1 Boolean |
Entity |
LinkML Source
name: variant to population association
description: An association between a variant and a population, where the variant
has particular frequency in the population
from_schema: https://w3id.org/biolink/biolink-model
is_a: association
mixins:
- variant to entity association mixin
- frequency quantifier
- frequency qualifier mixin
slot_usage:
subject:
name: subject
description: an allele that has a certain frequency in a given population
examples:
- value: NC_000017.11:g.43051071A>T
description: 17:41203088 A/C in gnomad
range: sequence variant
object:
name: object
description: the population that is observed to have the frequency
examples:
- value: HANCESTRO:0010
description: African
range: population of individual organisms
has quotient:
name: has quotient
description: frequency of allele in population, expressed as a number with allele
divided by number in reference population, aka allele frequency
examples:
- value: '0.0001666'
has count:
name: has count
description: number in object population that carry a particular allele, aka allele
count
examples:
- value: '4'
description: 4 individuals in gnomad set
has total:
name: has total
description: number all populations that carry a particular allele, aka allele
number
examples:
- value: '24014'
description: 24014 individuals in gnomad set
defining_slots:
- subject
- object