Name | Flags | Card. | Type | Description & Constraints![]() |
---|---|---|---|---|
Σ | DomainResource | A Sequence | ||
Σ | 1..1 | code | AA | DNA | RNA sequenceType (Example) | |
Σ | 0..1 | Reference(Patient) | Who and/or what this is about | |
Σ | 0..1 | Reference(Specimen) | Specimen used for sequencing | |
Σ | 0..1 | Reference(Device) | The method for sequencing | |
Σ | 0..1 | Quantity | Quantity of the sequence | |
Σ | 0..1 | CodeableConcept | Supporting tests of human, viruses, and bacteria SNOMED CT Codes for species (Example) | |
Σ | 0..* | BackboneElement | Reference sequence | |
Σ | 0..1 | CodeableConcept | The chromosome containing the genetic finding chromosome-human (Example) | |
Σ | 0..1 | string | The Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37' | |
Σ | 1..1 | CodeableConcept | Reference identifier ENSEMBL (Example) | |
Σ | 0..1 | Reference(Sequence) | A Pointer to another Sequence entity as refence sequence | |
Σ | 0..1 | string | A Reference Sequence string | |
Σ | 1..1 | integer | 0-based start position (inclusive) of the window on the reference sequence | |
Σ | 1..1 | integer | 0-based end position (exclusive) of the window on the reference sequence | |
Σ | 0..1 | BackboneElement | Variation info in this sequence | |
Σ | 0..1 | integer | 0-based start position (inclusive) of the variation on the reference sequence | |
Σ | 0..1 | integer | 0-based end position (exclusive) of the variation on the reference sequence | |
Σ | 0..1 | string | Nucleotide(s)/amino acids from start position to stop position of observed variation | |
Σ | 0..1 | string | Nucleotide(s)/amino acids from start position to stop position of reference variation | |
Σ | 0..1 | string | Extended CIGAR string for aligning the sequence with reference bases | |
Σ | 0..* | BackboneElement | Sequence Quality | |
Σ | 0..1 | integer | 0-based start position (inclusive) of the sequence | |
Σ | 0..1 | integer | 0-based end position (exclusive) of the sequence | |
Σ | 0..1 | Quantity | Quality score | |
Σ | 0..1 | string | Method for quality | |
Σ | 0..1 | CodeableConcept | The level of occurrence of a single DNA Sequence Variation within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous LOINC 53034-5 answerlist (Example) | |
Σ | 0..1 | decimal | Allele frequencies | |
Σ | 0..1 | CodeableConcept | Copy Number Event: Values: amplificaiton / deletion / LOH CopyNumberEvent (Example) | |
Σ | 0..1 | integer | Average number of reads representing a given nucleotide in the reconstructed sequence | |
Σ | 0..* | BackboneElement | External repository | |
Σ | 0..1 | uri | URI of the repository | |
Σ | 0..1 | string | Name of the repository | |
Σ | 0..1 | string | Id of the variant | |
Σ | 0..1 | string | Id of the read | |
Σ | 0..* | Reference(Sequence) | Pointer to next atomic sequence | |
Σ | 0..1 | string | Observed Sequence | |
Σ | 0..1 | Reference(Observation) | Observation-genetics | |
Σ | 0..1 | BackboneElement | ||
Σ | 0..1 | string | Precision of boundaries | |
Σ | 0..1 | decimal | Structural Variant reported aCGH ratio | |
Σ | 0..1 | integer | Structural Variant Length | |
Σ | 0..1 | BackboneElement | ||
Σ | 0..1 | integer | Structural Variant Outer Start-End | |
Σ | 0..1 | integer | Structural Variant Outer Start-End | |
Σ | 0..1 | BackboneElement | ||
Σ | 0..1 | integer | Structural Variant Inner Start-End | |
Σ | 0..1 | integer | Structural Variant Inner Start-End | |
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