Scope and Usage
Attributes
| Name | Type | Cardinality | Description | IRI | Defined in |
|---|---|---|---|---|---|
| individual | @id | 0..1 | The individual whose allele may be denovo | SEPIO:0000280 | IndividualAlleleInheritanceStatement |
| parentalConfirmation | @id | 0..1 | Whether or not the parent-child relationship was independently confirmed | SEPIO:0000167 | IndividualAlleleInheritanceStatement |
| statementOutcome | @id | 1..* | Source of an allele in an individual | SEPIO:0000197 | IndividualAlleleInheritanceStatement |
| canonicalAllele | CanonicalAllele | 0..1 | The allele whose denovo status is being described | SEPIO:0000275 | IndividualAlleleInheritanceStatement |
| label | string | 0..1 | A name given to the resource. | RDFS:label | Entity |
| description | string | 0..1 | Description may include but is not limited to: an abstract, a table of contents, a graphical representation, or a free-text account of the resource. | DC:description | Entity |
| userLabelDictionary | UserLabel | 0..* | An optional label defined by the user. Used for custom entities or to clarify the preferred user label on existing entities with non-preferred labels. | SEPIO:0000422 | Statement |
| outcomeQualifier | string | 0..1 | Use “NOT” as the value of this property to assert that the statement is negated. | SEPIO:0000346 | Statement |
| evidenceLine | EvidenceLine | 0..* | supporting evidence | SEPIO:0000006 | Statement |
| contribution | Contribution | 0..* | The contributions (agent, time and role) made to this entity | SEPIO:0000159 | Statement |
| source | string | 0..* | A string indicating the source of a Statement | DC:source | Statement |
Instances
| ID | label | description | userLabelDictionary | outcomeQualifier | evidenceLine | individual | parentalConfirmation | statementOutcome | canonicalAllele |
|---|---|---|---|---|---|---|---|---|---|
|
parentage confirmed via haplotyping. |
(individual #001) | (maternal and paternal confirmation) | (de novo) | ||||||
|
Non-paternity was excluded by assessment with microsatellites |
(individual #002) | (paternal confirmation) | (de novo) | ||||||
|
Variant from trio WES, which confirmed parentage |
(individual #003) | (maternal and paternal confirmation) | (de novo) | ||||||
|
parentage confirmation not mentioned in the source article |
(individual #007) | (no parental confirmation) | (de novo) | ||||||
|
parentage confirmation not mentioned in the source article |
(individual #008) | (no parental confirmation) | (de novo) | ||||||
|
parentage confirmation not mentioned in the source article |
(individual #009) | (no parental confirmation) | (de novo) | ||||||
| (individual #010) | (no parental confirmation) | (de novo) | |||||||
| (individual #011) | (no parental confirmation) | (de novo) | |||||||
| (individual #012) | (no parental confirmation) | (de novo) | |||||||
| (individual #030) | (no parental confirmation) | (de novo) |