NameFlagsCard.TypeDescription & Constraintsdoco
.. Sequence ΣDomainResourceA Sequence
... type Σ1..1codeAA | DNA | RNA
sequenceType (Example)
... variationID Σ0..*CodeableConceptIdentifier for variant and ClinVar, dbSNP or COSMIC identifier should be used
dbSNP (Example)
... referenceSeq Σ0..1CodeableConceptReference identifier. It must match the type in the Sequence.type field
ENSEMBL (Example)
... quantity Σ0..1QuantityQuantity of the sequence
... coordinate Σ0..*BackboneElementThe coordinate of the variant
.... chromosome Σ0..1CodeableConceptThe chromosome containing the genetic finding
.... start Σ0..1integer0-based start position (inclusive) of the sequence
.... end Σ0..1integer0-based end position (exclusive) of the sequence
.... genomeBuild Σ0..1CodeableConceptThe Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37'
... species Σ0..1CodeableConceptSupporting tests of human, viruses, and bacteria
... observedAllele Σ0..1stringNucleotide(s)/amino acids from start position of sequence to stop position of observed sequence
... referenceAllele Σ0..1stringNucleotide(s)/amino acids from start position of sequence to stop position of reference sequence
... cigar Σ0..1stringExtended CIGAR string for aligning the sequence with reference bases
... quality Σ0..*BackboneElementSequence Quality
.... start Σ0..1integer0-based start position (inclusive) of the sequence
.... end Σ0..1integer0-based end position (exclusive) of the sequence
.... score Σ0..1QuantityQuality score
.... platform Σ0..1CodeableConceptPlatform
... allelicState Σ0..1CodeableConceptThe level of occurrence of a single DNA Sequence Variation within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous
LOINC 53034-5 answerlist (Example)
... allelicFrequency Σ0..1decimalAllele frequencies
... copyNumberEvent Σ0..1CodeableConceptCopy Number Event: Values: amplificaiton / deletion / LOH
... readCoverage Σ0..1integerAverage number of reads representing a given nucleotide in the reconstructed sequence
... chip Σ0..1BackboneElementInformation of chip
.... chipId Σ0..1stringChip id
.... manufacturerId Σ0..1stringChip manufacturer id
.... version Σ0..1stringChip version
... repository Σ0..*BackboneElementExternal repository
.... url Σ0..1uriURI of the repository
.... name Σ0..1stringName of the repository
.... structure Σ0..1uriURI of the page containing information about the structure of the repository
.... variantId Σ0..1stringId of a GA4GH variant
.... readGroupSetId Σ0..1stringId of a GA4GH read group

doco Documentation for this format