Scope and Usage
Attributes
| Name | Type | Cardinality | Description | IRI | Defined in |
|---|---|---|---|---|---|
| individual | @id | 0..1 | Person whose alleles the data represents | SEPIO:0000280 | IndividualGenotypeStatement |
| statementOutcome | @id | 1..1 | The assessed outcome of the allelic state of one or more alleles in the genome of an individual (e.g. zygosity information, or phase relative to a second allele). | SEPIO:0000197 | IndividualGenotypeStatement |
| genotype | Genotype | 1..* | Genotype the individual has | SEPIO:0000425 | IndividualGenotypeStatement |
| 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 | statementOutcome | genotype |
|---|---|---|---|---|---|---|---|---|
|
Father was het for c.9449delG variant and negative for c.7468_7488del variant. Mother was het for c.7468_7488del variant and negative for c.9449delG variant. Thus, variants are in trans in this proband. |
(individual #004) | |||||||
|
Based on the NGS data, we are able to determine that c.298G>A and c.411+1G>A are in trans as no NGS reads carry both variants. |
(individual #005) | |||||||
| (individual #006) | ||||||||
| (individual #013) | ||||||||
| (individual #014) | ||||||||
| (individual #015) | ||||||||
| (individual #016) | ||||||||
| (individual #017) | ||||||||
| (individual #018) | ||||||||
| (individual #019) | ||||||||
| (individual #020) | ||||||||
| (individual #021) | ||||||||
| (individual #022) | ||||||||
| (individual #023) | ||||||||
| (individual #024) | ||||||||
| (individual #025) | ||||||||
| (individual #026) | ||||||||
| (individual #027) | ||||||||
| (individual #028) | ||||||||
| (individual #029) |