Raw data describing a biological sequence.

A 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.

Asserting this rule set restricts the content to be only understood by a limited set of trading partners. This inherently limits the usefulness of the data in the long term. However, the existing health eco-system is highly fractured, and not yet ready to define, collect, and exchange data in a generally computable sense. Wherever possible, implementers and/or specification writers should avoid using this element. Often, when used, the URL is a reference to an implementation guide that defines these special rules as part of it's narrative along with other profiles, value sets, etc.

An Extension

R5: MolecularSequence.focus (new:Reference(Resource))

Element MolecularSequence.focus has a context of MolecularSequence based on following the parent source element upwards and mapping to MolecularSequence. Element MolecularSequence.focus has no mapping targets in FHIR R4. Typically, this is because the element has been added (is a new element).

R5: MolecularSequence.formatted (new:Attachment)

Element MolecularSequence.formatted has a context of MolecularSequence based on following the parent source element upwards and mapping to MolecularSequence. Element MolecularSequence.formatted has no mapping targets in FHIR R4. Typically, this is because the element has been added (is a new element).

R5: MolecularSequence.relative.coordinateSystem (new:CodeableConcept)

Element MolecularSequence.relative.coordinateSystem has a context of MolecularSequence based on following the parent source element upwards and mapping to MolecularSequence. Element MolecularSequence.relative.coordinateSystem has no mapping targets in FHIR R4. Typically, this is because the element has been added (is a new element).

R5: MolecularSequence.relative.ordinalPosition (new:integer)

Element MolecularSequence.relative.ordinalPosition has a context of MolecularSequence based on following the parent source element upwards and mapping to MolecularSequence. Element MolecularSequence.relative.ordinalPosition has no mapping targets in FHIR R4. Typically, this is because the element has been added (is a new element).

R5: MolecularSequence.relative.sequenceRange (new:Range)

Element MolecularSequence.relative.sequenceRange has a context of MolecularSequence based on following the parent source element upwards and mapping to MolecularSequence. Element MolecularSequence.relative.sequenceRange has no mapping targets in FHIR R4. Typically, this is because the element has been added (is a new element).

May 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).

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

Whether 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).

R5: MolecularSequence.focus (new:Reference(Resource))

Element MolecularSequence.focus has a context of MolecularSequence based on following the parent source element upwards and mapping to MolecularSequence. Element MolecularSequence.focus has no mapping targets in FHIR R4. Typically, this is because the element has been added (is a new element).

R5: MolecularSequence.formatted (new:Attachment)

Element MolecularSequence.formatted has a context of MolecularSequence based on following the parent source element upwards and mapping to MolecularSequence. Element MolecularSequence.formatted has no mapping targets in FHIR R4. Typically, this is because the element has been added (is a new element).

R5: MolecularSequence.relative.coordinateSystem (new:CodeableConcept)

Element MolecularSequence.relative.coordinateSystem has a context of MolecularSequence based on following the parent source element upwards and mapping to MolecularSequence. Element MolecularSequence.relative.coordinateSystem has no mapping targets in FHIR R4. Typically, this is because the element has been added (is a new element).

R5: MolecularSequence.relative.ordinalPosition (new:integer)

Element MolecularSequence.relative.ordinalPosition has a context of MolecularSequence based on following the parent source element upwards and mapping to MolecularSequence. Element MolecularSequence.relative.ordinalPosition has no mapping targets in FHIR R4. Typically, this is because the element has been added (is a new element).

R5: MolecularSequence.relative.sequenceRange (new:Range)

Element MolecularSequence.relative.sequenceRange has a context of MolecularSequence based on following the parent source element upwards and mapping to MolecularSequence. Element MolecularSequence.relative.sequenceRange has no mapping targets in FHIR R4. Typically, this is because the element has been added (is a new element).

R5: MolecularSequence.subject

Element MolecularSequence.subject is mapped to FHIR R4 element MolecularSequence.patient as SourceIsBroaderThanTarget. The standard extension alternate-reference has been mapped as the representation of FHIR R5 element MolecularSequence.subject with unmapped reference targets: BiologicallyDerivedProduct, Group, NutritionProduct, Substance.

R5: MolecularSequence.relative.startingSequence.genomeAssembly (new:CodeableConcept)

Element MolecularSequence.relative.startingSequence.genomeAssembly has a context of MolecularSequence.referenceSeq based on following the parent source element upwards and mapping to MolecularSequence. Element MolecularSequence.relative.startingSequence.genomeAssembly has no mapping targets in FHIR R4. Typically, this is because the element has been added (is a new element).

R5: MolecularSequence.relative.startingSequence.sequence[x] additional types (CodeableConcept, Reference(http://hl7.org/fhir/StructureDefinition/MolecularSequence))

Element MolecularSequence.relative.startingSequence.sequence[x] is mapped to FHIR R4 element MolecularSequence.referenceSeq.referenceSeqString as SourceIsBroaderThanTarget. The mappings for MolecularSequence.relative.startingSequence.sequence[x] do not cover the following types: CodeableConcept, Reference. A starting sequence may be represented in one of three ways:

1. CodeableConcept, using NCBI, LRG or other appropriate code systems
2. a simple string of IUPAC codes
3. a reference to another MolecularSequence resource.

R5: MolecularSequence.relative.startingSequence.chromosome

Element MolecularSequence.relative.startingSequence.chromosome is mapped to FHIR R4 element MolecularSequence.referenceSeq.chromosome as Equivalent.

R5: MolecularSequence.relative.edit.start (new:integer)

Element MolecularSequence.relative.edit.start has a context of MolecularSequence.variant based on following the parent source element upwards and mapping to MolecularSequence. Element MolecularSequence.relative.edit.start has no mapping targets in FHIR R4. Typically, this is because the element has been added (is a new element).

Raw data describing a biological sequence.

The logical id of the resource, as used in the URL for the resource. Once assigned, this value never changes.

The only time that a resource does not have an id is when it is being submitted to the server using a create operation.

The 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.

A 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.

Asserting this rule set restricts the content to be only understood by a limited set of trading partners. This inherently limits the usefulness of the data in the long term. However, the existing health eco-system is highly fractured, and not yet ready to define, collect, and exchange data in a generally computable sense. Wherever possible, implementers and/or specification writers should avoid using this element. Often, when used, the URL is a reference to an implementation guide that defines these special rules as part of it's narrative along with other profiles, value sets, etc.

The base language in which the resource is written.

Language is provided to support indexing and accessibility (typically, services such as text to speech use the language tag). The html language tag in the narrative applies to the narrative. The language tag on the resource may be used to specify the language of other presentations generated from the data in the resource. Not all the content has to be in the base language. The Resource.language should not be assumed to apply to the narrative automatically. If a language is specified, it should it also be specified on the div element in the html (see rules in HTML5 for information about the relationship between xml:lang and the html lang attribute).

The codes SHOULD be taken from CommonLanguages
(preferred to http://hl7.org/fhir/ValueSet/languages|4.0.1)

A human language.

A 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.

Contained resources do not have narrative. Resources that are not contained SHOULD have a narrative. In some cases, a resource may only have text with little or no additional discrete data (as long as all minOccurs=1 elements are satisfied). This may be necessary for data from legacy systems where information is captured as a "text blob" or where text is additionally entered raw or narrated and encoded information is added later.

These 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.

This should never be done when the content can be identified properly, as once identification is lost, it is extremely difficult (and context dependent) to restore it again. Contained resources may have profiles and tags In their meta elements, but SHALL NOT have security labels.

An Extension

R5: MolecularSequence.focus (new:Reference(Resource))

Element MolecularSequence.focus has a context of MolecularSequence based on following the parent source element upwards and mapping to MolecularSequence. Element MolecularSequence.focus has no mapping targets in FHIR R4. Typically, this is because the element has been added (is a new element).

R5: MolecularSequence.formatted (new:Attachment)

Element MolecularSequence.formatted has a context of MolecularSequence based on following the parent source element upwards and mapping to MolecularSequence. Element MolecularSequence.formatted has no mapping targets in FHIR R4. Typically, this is because the element has been added (is a new element).

R5: MolecularSequence.relative.coordinateSystem (new:CodeableConcept)

Element MolecularSequence.relative.coordinateSystem has a context of MolecularSequence based on following the parent source element upwards and mapping to MolecularSequence. Element MolecularSequence.relative.coordinateSystem has no mapping targets in FHIR R4. Typically, this is because the element has been added (is a new element).

R5: MolecularSequence.relative.ordinalPosition (new:integer)

Element MolecularSequence.relative.ordinalPosition has a context of MolecularSequence based on following the parent source element upwards and mapping to MolecularSequence. Element MolecularSequence.relative.ordinalPosition has no mapping targets in FHIR R4. Typically, this is because the element has been added (is a new element).

R5: MolecularSequence.relative.sequenceRange (new:Range)

Element MolecularSequence.relative.sequenceRange has a context of MolecularSequence based on following the parent source element upwards and mapping to MolecularSequence. Element MolecularSequence.relative.sequenceRange has no mapping targets in FHIR R4. Typically, this is because the element has been added (is a new element).

May 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).

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

A unique identifier for this particular sequence instance. This is a FHIR-defined id.

Allows sequences to be distinguished and referenced.

Amino Acid Sequence/ DNA Sequence / RNA Sequence.

Type if a sequence -- DNA, RNA, or amino acid sequence.

Whether 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).

The patient whose sequencing results are described by this resource.

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

An Extension

R5: MolecularSequence.subject

Element MolecularSequence.subject is mapped to FHIR R4 element MolecularSequence.patient as SourceIsBroaderThanTarget. The standard extension alternate-reference has been mapped as the representation of FHIR R5 element MolecularSequence.subject with unmapped reference targets: BiologicallyDerivedProduct, Group, NutritionProduct, Substance.

A reference to a location at which the other resource is found. The reference may be a relative reference, in which case it is relative to the service base URL, or an absolute URL that resolves to the location where the resource is found. The reference may be version specific or not. If the reference is not to a FHIR RESTful server, then it should be assumed to be version specific. Internal fragment references (start with '#') refer to contained resources.

Using absolute URLs provides a stable scalable approach suitable for a cloud/web context, while using relative/logical references provides a flexible approach suitable for use when trading across closed eco-system boundaries. Absolute URLs do not need to point to a FHIR RESTful server, though this is the preferred approach. If the URL conforms to the structure "/[type]/[id]" then it should be assumed that the reference is to a FHIR RESTful server.

The expected type of the target of the reference. If both Reference.type and Reference.reference are populated and Reference.reference is a FHIR URL, both SHALL be consistent.

The type is the Canonical URL of Resource Definition that is the type this reference refers to. References are URLs that are relative to http://hl7.org/fhir/StructureDefinition/ e.g. "Patient" is a reference to http://hl7.org/fhir/StructureDefinition/Patient. Absolute URLs are only allowed for logical models (and can only be used in references in logical models, not resources).

This element is used to indicate the type of the target of the reference. This may be used which ever of the other elements are populated (or not). In some cases, the type of the target may be determined by inspection of the reference (e.g. a RESTful URL) or by resolving the target of the reference; if both the type and a reference is provided, the reference SHALL resolve to a resource of the same type as that specified.

Unless not suitable, these codes SHALL be taken from ResourceType
(extensible to http://hl7.org/fhir/ValueSet/resource-types|4.0.1)

Aa resource (or, for logical models, the URI of the logical model).

An identifier for the target resource. This is used when there is no way to reference the other resource directly, either because the entity it represents is not available through a FHIR server, or because there is no way for the author of the resource to convert a known identifier to an actual location. There is no requirement that a Reference.identifier point to something that is actually exposed as a FHIR instance, but it SHALL point to a business concept that would be expected to be exposed as a FHIR instance, and that instance would need to be of a FHIR resource type allowed by the reference.

When an identifier is provided in place of a reference, any system processing the reference will only be able to resolve the identifier to a reference if it understands the business context in which the identifier is used. Sometimes this is global (e.g. a national identifier) but often it is not. For this reason, none of the useful mechanisms described for working with references (e.g. chaining, includes) are possible, nor should servers be expected to be able resolve the reference. Servers may accept an identifier based reference untouched, resolve it, and/or reject it - see CapabilityStatement.rest.resource.referencePolicy.

When both an identifier and a literal reference are provided, the literal reference is preferred. Applications processing the resource are allowed - but not required - to check that the identifier matches the literal reference

Applications converting a logical reference to a literal reference may choose to leave the logical reference present, or remove it.

Reference is intended to point to a structure that can potentially be expressed as a FHIR resource, though there is no need for it to exist as an actual FHIR resource instance - except in as much as an application wishes to actual find the target of the reference. The content referred to be the identifier must meet the logical constraints implied by any limitations on what resource types are permitted for the reference. For example, it would not be legitimate to send the identifier for a drug prescription if the type were Reference(Observation|DiagnosticReport). One of the use-cases for Reference.identifier is the situation where no FHIR representation exists (where the type is Reference (Any).

Plain text narrative that identifies the resource in addition to the resource reference.

This is generally not the same as the Resource.text of the referenced resource. The purpose is to identify what's being referenced, not to fully describe it.

Specimen used for sequencing.

The method for sequencing, for example, chip information.

The organization or lab that should be responsible for this result.

The number of copies of the sequence of interest. (RNASeq).

A sequence that is used as a reference to describe variants that are present in a sequence analyzed.

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

An Extension

R5: MolecularSequence.relative.startingSequence.genomeAssembly (new:CodeableConcept)

Element MolecularSequence.relative.startingSequence.genomeAssembly has a context of MolecularSequence.referenceSeq based on following the parent source element upwards and mapping to MolecularSequence. Element MolecularSequence.relative.startingSequence.genomeAssembly has no mapping targets in FHIR R4. Typically, this is because the element has been added (is a new element).

R5: MolecularSequence.relative.startingSequence.sequence[x] additional types (CodeableConcept, Reference(http://hl7.org/fhir/StructureDefinition/MolecularSequence))

Element MolecularSequence.relative.startingSequence.sequence[x] is mapped to FHIR R4 element MolecularSequence.referenceSeq.referenceSeqString as SourceIsBroaderThanTarget. The mappings for MolecularSequence.relative.startingSequence.sequence[x] do not cover the following types: CodeableConcept, Reference. A starting sequence may be represented in one of three ways:

1. CodeableConcept, using NCBI, LRG or other appropriate code systems
2. a simple string of IUPAC codes
3. a reference to another MolecularSequence resource.

May 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).

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

Structural 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).

Chromosome number for human.

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

An Extension

R5: MolecularSequence.relative.startingSequence.chromosome

Element MolecularSequence.relative.startingSequence.chromosome is mapped to FHIR R4 element MolecularSequence.referenceSeq.chromosome as Equivalent.

A reference to a code defined by a terminology system.

Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true.

Allows for alternative encodings within a code system, and translations to other code systems.

A human language representation of the concept as seen/selected/uttered by the user who entered the data and/or which represents the intended meaning of the user.

Very often the text is the same as a displayName of one of the codings.

The codes from the terminologies do not always capture the correct meaning with all the nuances of the human using them, or sometimes there is no appropriate code at all. In these cases, the text is used to capture the full meaning of the source.

The 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.

A 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.

Type for orientation.

Reference 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.

Reference identifier.

A pointer to another MolecularSequence entity as reference sequence.

A string like "ACGT".

An 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.

Type for strand.

Start position of the window on the reference sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive.

End 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.

The 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.

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

An Extension

R5: MolecularSequence.relative.edit.start (new:integer)

Element MolecularSequence.relative.edit.start has a context of MolecularSequence.variant based on following the parent source element upwards and mapping to MolecularSequence. Element MolecularSequence.relative.edit.start has no mapping targets in FHIR R4. Typically, this is because the element has been added (is a new element).

May 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).

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

Start position of the variant on the reference sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive.

End 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.

An 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.

An 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.

Extended CIGAR string for aligning the sequence with reference bases. See detailed documentation here.

A pointer to an Observation containing variant information.

Sequence 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.

An experimental feature attribute that defines the quality of the feature in a quantitative way, such as a phred quality score (SO:0001686).

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

May 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.

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

May 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).

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

INDEL / SNP / Undefined variant.

Type for quality report.

Gold standard sequence used for comparing against.

Reference identifier of the sequence that used to mark the quality of tested samples.

Start position of the sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive.

End 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.

The score of an experimentally derived feature such as a p-value (SO:0001685).

Which method is used to get sequence quality.

The method used to evaluate the numerical quality of the observed sequence.

True 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.

True 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.

False 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.

False 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.

The 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).

QUERY.TP / (QUERY.TP + QUERY.FP).

TRUTH.TP / (TRUTH.TP + TRUTH.FN).

Harmonic mean of Recall and Precision, computed as: 2 * precision * recall / (precision + recall).

Receiver Operator Characteristic (ROC) Curve to give sensitivity/specificity tradeoff.

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

May 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.

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

May 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).

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

Invidual data point representing the GQ (genotype quality) score threshold.

The number of true positives if the GQ score threshold was set to "score" field value.

The number of false positives if the GQ score threshold was set to "score" field value.

The number of false negatives if the GQ score threshold was set to "score" field value.

Calculated precision if the GQ score threshold was set to "score" field value.

Calculated sensitivity if the GQ score threshold was set to "score" field value.

Calculated fScore if the GQ score threshold was set to "score" field value.

Coverage (read depth or depth) is the average number of reads representing a given nucleotide in the reconstructed sequence.

Configurations of the external repository. The repository shall store target's observedSeq or records related with target's observedSeq.

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

May 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.

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

May 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).

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

Click and see / RESTful API / Need login to see / RESTful API with authentication / Other ways to see resource.

Type for access of external URI.

URI of an external repository which contains further details about the genetics data.

URI of an external repository which contains further details about the genetics data.

Id 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.

Id 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.

Id of the read in this external repository.

Pointer to next atomic sequence which at most contains one variant.

Information about chromosome structure variation.

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

May 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.

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

May 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).

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

Information about chromosome structure variation DNA change type.

DNA change type.

Used to indicate if the outer and inner start-end values have the same meaning.

Length of the variant chromosome.

Structural variant outer.

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

May 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.

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

May 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).

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

Structural variant outer start. If the coordinate system is either 0-based or 1-based, then start position is inclusive.

Structural 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.

Structural variant inner.

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

May 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.

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

May 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).

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

Structural variant inner start. If the coordinate system is either 0-based or 1-based, then start position is inclusive.

Structural 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.