| Name | Flags | Card. | Type | Description & Constraints![]() |
|---|---|---|---|---|
| Σ | DomainResource | Information about a biological sequence | ||
| Σ | 0..* | Identifier | Unique ID for this particular sequence | |
| Σ | 1..1 | code | AA | DNA | RNA sequenceType (Example) | |
| Σ | 1..1 | integer | Numbering used for sequence (0-based or 1-based) | |
| 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 | BackboneElement | Reference sequence | |
| Σ | 0..1 | CodeableConcept | Chromosome containing 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 | Strand of DNA | |
| Σ | 1..1 | integer | Start position (inclusive) of the window on the reference sequence | |
| Σ | 1..1 | integer | End position (exclusive) of the window on the reference sequence | |
| Σ | 0..* | BackboneElement | Sequence variant | |
| Σ | 0..1 | integer | Start position (inclusive) of the variant on the reference sequence | |
| Σ | 0..1 | integer | End position (exclusive) of the variant on the reference sequence | |
| Σ | 0..1 | string | Allele that was observed | |
| Σ | 0..1 | string | Allele of reference sequence | |
| Σ | 0..1 | string | Extended CIGAR string for aligning the sequence with reference bases | |
| Σ | 0..1 | Reference(Observation) | Pointer to observed variant information | |
| Σ | 0..1 | string | Observed sequence | |
| Σ | 0..* | BackboneElement | Sequence quality | |
| Σ | 0..1 | CodeableConcept | Standard sequence for comparison | |
| Σ | 0..1 | integer | Start position (inclusive) of the sequence | |
| Σ | 0..1 | integer | End position (exclusive) of the sequence | |
| Σ | 0..1 | Quantity | Quality score | |
| Σ | 0..1 | CodeableConcept | Method for quality | |
| Σ | 0..1 | decimal | True positives from the perspective of the truth data | |
| Σ | 0..1 | decimal | True positives from the perspective of the query data | |
| Σ | 0..1 | decimal | False negatives | |
| Σ | 0..1 | decimal | False positives | |
| Σ | 0..1 | decimal | False positives where the non-REF alleles in the Truth and Query Call Sets match | |
| Σ | 0..1 | decimal | Precision | |
| Σ | 0..1 | decimal | Recall | |
| Σ | 0..1 | decimal | F-score | |
| 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..* | 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 | |
Documentation for this format | ||||