Skip to main content

MolecularSequence

PropertyValue
Publisher
NameMolecularSequence
URLhttp://hl7.org/fhir/StructureDefinition/MolecularSequence
Statusdraft
Description
Abstractfalse

Structure

PathCardinalityTypeDescription
MolecularSequence0..*MolecularSequenceRaw data describing a biological sequence.
MolecularSequence.id0..1http://hl7.org/fhirpath/System.StringThe logical id of the resource, as used in the URL for the resource. Once assigned, this value never changes.
MolecularSequence.meta0..1MetaThe metadata about the resource. This is content that is maintained by the infrastructure. Changes to the content might not always be associated with version changes to the resource.
MolecularSequence.implicitRules0..1uriA reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content. Often, this is a reference to an implementation guide that defines the special rules along with other profiles etc.
MolecularSequence.language0..1codeThe base language in which the resource is written.
MolecularSequence.text0..1NarrativeA human-readable narrative that contains a summary of the resource and can be used to represent the content of the resource to a human. The narrative need not encode all the structured data, but is required to contain sufficient detail to make it "clinically safe" for a human to just read the narrative. Resource definitions may define what content should be represented in the narrative to ensure clinical safety.
MolecularSequence.contained0..*ResourceThese resources do not have an independent existence apart from the resource that contains them - they cannot be identified independently, and nor can they have their own independent transaction scope.
MolecularSequence.extension0..*ExtensionMay be used to represent additional information that is not part of the basic definition of the resource. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
MolecularSequence.modifierExtension0..*ExtensionMay be used to represent additional information that is not part of the basic definition of the resource and that modifies the understanding of the element that contains it and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).
MolecularSequence.identifier0..*IdentifierA unique identifier for this particular sequence instance. This is a FHIR-defined id.
MolecularSequence.type0..1codeAmino Acid Sequence/ DNA Sequence / RNA Sequence.
MolecularSequence.coordinateSystem1..1integerWhether the sequence is numbered starting at 0 (0-based numbering or coordinates, inclusive start, exclusive end) or starting at 1 (1-based numbering, inclusive start and inclusive end).
MolecularSequence.patient0..1ReferenceThe patient whose sequencing results are described by this resource.
MolecularSequence.specimen0..1ReferenceSpecimen used for sequencing.
MolecularSequence.device0..1ReferenceThe method for sequencing, for example, chip information.
MolecularSequence.performer0..1ReferenceThe organization or lab that should be responsible for this result.
MolecularSequence.quantity0..1QuantityThe number of copies of the sequence of interest. (RNASeq).
MolecularSequence.referenceSeq0..1BackboneElementA sequence that is used as a reference to describe variants that are present in a sequence analyzed.
MolecularSequence.referenceSeq.id0..1http://hl7.org/fhirpath/System.StringUnique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.
MolecularSequence.referenceSeq.extension0..*ExtensionMay be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
MolecularSequence.referenceSeq.modifierExtension0..*ExtensionMay be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).
MolecularSequence.referenceSeq.chromosome0..1CodeableConceptStructural unit composed of a nucleic acid molecule which controls its own replication through the interaction of specific proteins at one or more origins of replication (SO:0000340).
MolecularSequence.referenceSeq.genomeBuild0..1stringThe Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37'. Version number must be included if a versioned release of a primary build was used.
MolecularSequence.referenceSeq.orientation0..1codeA relative reference to a DNA strand based on gene orientation. The strand that contains the open reading frame of the gene is the "sense" strand, and the opposite complementary strand is the "antisense" strand.
MolecularSequence.referenceSeq.referenceSeqId0..1CodeableConceptReference identifier of reference sequence submitted to NCBI. It must match the type in the MolecularSequence.type field. For example, the prefix, “NG_” identifies reference sequence for genes, “NM_” for messenger RNA transcripts, and “NP_” for amino acid sequences.
MolecularSequence.referenceSeq.referenceSeqPointer0..1ReferenceA pointer to another MolecularSequence entity as reference sequence.
MolecularSequence.referenceSeq.referenceSeqString0..1stringA string like "ACGT".
MolecularSequence.referenceSeq.strand0..1codeAn absolute reference to a strand. The Watson strand is the strand whose 5'-end is on the short arm of the chromosome, and the Crick strand as the one whose 5'-end is on the long arm.
MolecularSequence.referenceSeq.windowStart0..1integerStart position of the window on the reference sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive.
MolecularSequence.referenceSeq.windowEnd0..1integerEnd position of the window on the reference sequence. If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position.
MolecularSequence.variant0..*BackboneElementThe definition of variant here originates from Sequence ontology (variant_of). This element can represent amino acid or nucleic sequence change(including insertion,deletion,SNP,etc.) It can represent some complex mutation or segment variation with the assist of CIGAR string.
MolecularSequence.variant.id0..1http://hl7.org/fhirpath/System.StringUnique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.
MolecularSequence.variant.extension0..*ExtensionMay be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
MolecularSequence.variant.modifierExtension0..*ExtensionMay be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).
MolecularSequence.variant.start0..1integerStart position of the variant on the reference sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive.
MolecularSequence.variant.end0..1integerEnd position of the variant on the reference sequence. If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position.
MolecularSequence.variant.observedAllele0..1stringAn allele is one of a set of coexisting sequence variants of a gene (SO:0001023). Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the observed sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand. This will lay in the range between variant.start and variant.end.
MolecularSequence.variant.referenceAllele0..1stringAn allele is one of a set of coexisting sequence variants of a gene (SO:0001023). Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the reference sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand. This will lay in the range between variant.start and variant.end.
MolecularSequence.variant.cigar0..1stringExtended CIGAR string for aligning the sequence with reference bases. See detailed documentation here.
MolecularSequence.variant.variantPointer0..1ReferenceA pointer to an Observation containing variant information.
MolecularSequence.observedSeq0..1stringSequence that was observed. It is the result marked by referenceSeq along with variant records on referenceSeq. This shall start from referenceSeq.windowStart and end by referenceSeq.windowEnd.
MolecularSequence.quality0..*BackboneElementAn experimental feature attribute that defines the quality of the feature in a quantitative way, such as a phred quality score (SO:0001686).
MolecularSequence.quality.id0..1http://hl7.org/fhirpath/System.StringUnique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.
MolecularSequence.quality.extension0..*ExtensionMay be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
MolecularSequence.quality.modifierExtension0..*ExtensionMay be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).
MolecularSequence.quality.type1..1codeINDEL / SNP / Undefined variant.
MolecularSequence.quality.standardSequence0..1CodeableConceptGold standard sequence used for comparing against.
MolecularSequence.quality.start0..1integerStart position of the sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive.
MolecularSequence.quality.end0..1integerEnd position of the sequence. If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position.
MolecularSequence.quality.score0..1QuantityThe score of an experimentally derived feature such as a p-value (SO:0001685).
MolecularSequence.quality.method0..1CodeableConceptWhich method is used to get sequence quality.
MolecularSequence.quality.truthTP0..1decimalTrue positives, from the perspective of the truth data, i.e. the number of sites in the Truth Call Set for which there are paths through the Query Call Set that are consistent with all of the alleles at this site, and for which there is an accurate genotype call for the event.
MolecularSequence.quality.queryTP0..1decimalTrue positives, from the perspective of the query data, i.e. the number of sites in the Query Call Set for which there are paths through the Truth Call Set that are consistent with all of the alleles at this site, and for which there is an accurate genotype call for the event.
MolecularSequence.quality.truthFN0..1decimalFalse negatives, i.e. the number of sites in the Truth Call Set for which there is no path through the Query Call Set that is consistent with all of the alleles at this site, or sites for which there is an inaccurate genotype call for the event. Sites with correct variant but incorrect genotype are counted here.
MolecularSequence.quality.queryFP0..1decimalFalse positives, i.e. the number of sites in the Query Call Set for which there is no path through the Truth Call Set that is consistent with this site. Sites with correct variant but incorrect genotype are counted here.
MolecularSequence.quality.gtFP0..1decimalThe number of false positives where the non-REF alleles in the Truth and Query Call Sets match (i.e. cases where the truth is 1/1 and the query is 0/1 or similar).
MolecularSequence.quality.precision0..1decimalQUERY.TP / (QUERY.TP + QUERY.FP).
MolecularSequence.quality.recall0..1decimalTRUTH.TP / (TRUTH.TP + TRUTH.FN).
MolecularSequence.quality.fScore0..1decimalHarmonic mean of Recall and Precision, computed as: 2 * precision * recall / (precision + recall).
MolecularSequence.quality.roc0..1BackboneElementReceiver Operator Characteristic (ROC) Curve to give sensitivity/specificity tradeoff.
MolecularSequence.quality.roc.id0..1http://hl7.org/fhirpath/System.StringUnique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.
MolecularSequence.quality.roc.extension0..*ExtensionMay be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
MolecularSequence.quality.roc.modifierExtension0..*ExtensionMay be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).
MolecularSequence.quality.roc.score0..*integerInvidual data point representing the GQ (genotype quality) score threshold.
MolecularSequence.quality.roc.numTP0..*integerThe number of true positives if the GQ score threshold was set to "score" field value.
MolecularSequence.quality.roc.numFP0..*integerThe number of false positives if the GQ score threshold was set to "score" field value.
MolecularSequence.quality.roc.numFN0..*integerThe number of false negatives if the GQ score threshold was set to "score" field value.
MolecularSequence.quality.roc.precision0..*decimalCalculated precision if the GQ score threshold was set to "score" field value.
MolecularSequence.quality.roc.sensitivity0..*decimalCalculated sensitivity if the GQ score threshold was set to "score" field value.
MolecularSequence.quality.roc.fMeasure0..*decimalCalculated fScore if the GQ score threshold was set to "score" field value.
MolecularSequence.readCoverage0..1integerCoverage (read depth or depth) is the average number of reads representing a given nucleotide in the reconstructed sequence.
MolecularSequence.repository0..*BackboneElementConfigurations of the external repository. The repository shall store target's observedSeq or records related with target's observedSeq.
MolecularSequence.repository.id0..1http://hl7.org/fhirpath/System.StringUnique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.
MolecularSequence.repository.extension0..*ExtensionMay be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
MolecularSequence.repository.modifierExtension0..*ExtensionMay be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).
MolecularSequence.repository.type1..1codeClick and see / RESTful API / Need login to see / RESTful API with authentication / Other ways to see resource.
MolecularSequence.repository.url0..1uriURI of an external repository which contains further details about the genetics data.
MolecularSequence.repository.name0..1stringURI of an external repository which contains further details about the genetics data.
MolecularSequence.repository.datasetId0..1stringId of the variant in this external repository. The server will understand how to use this id to call for more info about datasets in external repository.
MolecularSequence.repository.variantsetId0..1stringId of the variantset in this external repository. The server will understand how to use this id to call for more info about variantsets in external repository.
MolecularSequence.repository.readsetId0..1stringId of the read in this external repository.
MolecularSequence.pointer0..*ReferencePointer to next atomic sequence which at most contains one variant.
MolecularSequence.structureVariant0..*BackboneElementInformation about chromosome structure variation.
MolecularSequence.structureVariant.id0..1http://hl7.org/fhirpath/System.StringUnique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.
MolecularSequence.structureVariant.extension0..*ExtensionMay be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
MolecularSequence.structureVariant.modifierExtension0..*ExtensionMay be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).
MolecularSequence.structureVariant.variantType0..1CodeableConceptInformation about chromosome structure variation DNA change type.
MolecularSequence.structureVariant.exact0..1booleanUsed to indicate if the outer and inner start-end values have the same meaning.
MolecularSequence.structureVariant.length0..1integerLength of the variant chromosome.
MolecularSequence.structureVariant.outer0..1BackboneElementStructural variant outer.
MolecularSequence.structureVariant.outer.id0..1http://hl7.org/fhirpath/System.StringUnique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.
MolecularSequence.structureVariant.outer.extension0..*ExtensionMay be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
MolecularSequence.structureVariant.outer.modifierExtension0..*ExtensionMay be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).
MolecularSequence.structureVariant.outer.start0..1integerStructural variant outer start. If the coordinate system is either 0-based or 1-based, then start position is inclusive.
MolecularSequence.structureVariant.outer.end0..1integerStructural variant outer end. If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position.
MolecularSequence.structureVariant.inner0..1BackboneElementStructural variant inner.
MolecularSequence.structureVariant.inner.id0..1http://hl7.org/fhirpath/System.StringUnique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.
MolecularSequence.structureVariant.inner.extension0..*ExtensionMay be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
MolecularSequence.structureVariant.inner.modifierExtension0..*ExtensionMay be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).
MolecularSequence.structureVariant.inner.start0..1integerStructural variant inner start. If the coordinate system is either 0-based or 1-based, then start position is inclusive.
MolecularSequence.structureVariant.inner.end0..1integerStructural variant inner end. If the coordinate system is 0-based then end is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position.

Search Parameters

NameTypeDescriptionExpression
_textstringSearch on the narrative of the resource
_contentstringSearch on the entire content of the resource
_idtokenLogical id of this artifactResource.id
_lastUpdateddateWhen the resource version last changedResource.meta.lastUpdated
_profileuriProfiles this resource claims to conform toResource.meta.profile
_querytokenA custom search profile that describes a specific defined query operation
_securitytokenSecurity Labels applied to this resourceResource.meta.security
_sourceuriIdentifies where the resource comes fromResource.meta.source
_tagtokenTags applied to this resourceResource.meta.tag
chromosometokenChromosome number of the reference sequenceMolecularSequence.referenceSeq.chromosome
identifiertokenThe unique identity for a particular sequenceMolecularSequence.identifier
patientreferenceThe subject that the observation is aboutMolecularSequence.patient
referenceseqidtokenReference Sequence of the sequenceMolecularSequence.referenceSeq.referenceSeqId
typetokenAmino Acid Sequence/ DNA Sequence / RNA SequenceMolecularSequence.type
variant-endnumberEnd position (0-based exclusive, which menas the acid at this position will not be included, 1-based inclusive, which means the acid at this position will be included) of the variant.MolecularSequence.variant.end
variant-startnumberStart position (0-based inclusive, 1-based inclusive, that means the nucleic acid or amino acid at this position will be included) of the variant.MolecularSequence.variant.start
window-endnumberEnd position (0-based exclusive, which menas the acid at this position will not be included, 1-based inclusive, which means the acid at this position will be included) of the reference sequence.MolecularSequence.referenceSeq.windowEnd
window-startnumberStart position (0-based inclusive, 1-based inclusive, that means the nucleic acid or amino acid at this position will be included) of the reference sequence.MolecularSequence.referenceSeq.windowStart
chromosome-variant-coordinatecompositeSearch parameter by chromosome and variant coordinate. This will refer to part of a locus or part of a gene where search region will be represented in 1-based system. Since the coordinateSystem can either be 0-based or 1-based, this search query will include the result of both coordinateSystem that contains the equivalent segment of the gene or whole genome sequence. For example, a search for sequence can be represented as `chromosome-variant-coordinate=1$lt345$gt123`, this means it will search for the MolecularSequence resource with variants on chromosome 1 and with position >123 and <345, where in 1-based system resource, all strings within region 1:124-344 will be revealed, while in 0-based system resource, all strings within region 1:123-344 will be revealed. You may want to check detail about 0-based v.s. 1-based above.MolecularSequence.variant
chromosome-window-coordinatecompositeSearch parameter by chromosome and window. This will refer to part of a locus or part of a gene where search region will be represented in 1-based system. Since the coordinateSystem can either be 0-based or 1-based, this search query will include the result of both coordinateSystem that contains the equivalent segment of the gene or whole genome sequence. For example, a search for sequence can be represented as `chromosome-window-coordinate=1$lt345$gt123`, this means it will search for the MolecularSequence resource with a window on chromosome 1 and with position >123 and <345, where in 1-based system resource, all strings within region 1:124-344 will be revealed, while in 0-based system resource, all strings within region 1:123-344 will be revealed. You may want to check detail about 0-based v.s. 1-based above.MolecularSequence.referenceSeq
referenceseqid-variant-coordinatecompositeSearch parameter by reference sequence and variant coordinate. This will refer to part of a locus or part of a gene where search region will be represented in 1-based system. Since the coordinateSystem can either be 0-based or 1-based, this search query will include the result of both coordinateSystem that contains the equivalent segment of the gene or whole genome sequence. For example, a search for sequence can be represented as `referenceSeqId-variant-coordinate=NC_000001.11$lt345$gt123`, this means it will search for the MolecularSequence resource with variants on NC_000001.11 and with position >123 and <345, where in 1-based system resource, all strings within region NC_000001.11:124-344 will be revealed, while in 0-based system resource, all strings within region NC_000001.11:123-344 will be revealed. You may want to check detail about 0-based v.s. 1-based above.MolecularSequence.variant
referenceseqid-window-coordinatecompositeSearch parameter by reference sequence and window. This will refer to part of a locus or part of a gene where search region will be represented in 1-based system. Since the coordinateSystem can either be 0-based or 1-based, this search query will include the result of both coordinateSystem that contains the equivalent segment of the gene or whole genome sequence. For example, a search for sequence can be represented as `referenceSeqId-window-coordinate=NC_000001.11$lt345$gt123`, this means it will search for the MolecularSequence resource with a window on NC_000001.11 and with position >123 and <345, where in 1-based system resource, all strings within region NC_000001.11:124-344 will be revealed, while in 0-based system resource, all strings within region NC_000001.11:123-344 will be revealed. You may want to check detail about 0-based v.s. 1-based above.MolecularSequence.referenceSeq
_iguhealth-version-seqnumberThe version sequence of the resourceResource.meta.extension.where(url='https://iguhealth.app/version-sequence').value
_iguhealth-authorreferenceThe author of the resourceResource.meta.extension.where(url='https://iguhealth.app/author').value