> ## Documentation Index
> Fetch the complete documentation index at: https://docs.metriport.com/llms.txt
> Use this file to discover all available pages before exploring further.

# MolecularSequence

> Raw data describing a biological sequence.

## Properties

| Name                  | Required | Type                                                                              | Description                                                                                                                                                        |
| --------------------- | -------- | --------------------------------------------------------------------------------- | ------------------------------------------------------------------------------------------------------------------------------------------------------------------ |
| identifier            | No       | [Identifier](/medical-api/fhir/data-types/identifier)\[]                          | Unique ID for this particular sequence. This is a FHIR-defined id                                                                                                  |
| type                  | No       | code                                                                              | aa / dna / rna                                                                                                                                                     |
| coordinateSystem      | Yes      | integer                                                                           | Base number of coordinate system (0 for 0-based numbering or coordinates, inclusive start, exclusive end, 1 for 1-based numbering, inclusive start, inclusive end) |
| patient               | No       | Reference\<[Patient](/medical-api/fhir/resources/patient)>                        | Who and/or what this is about                                                                                                                                      |
| specimen              | No       | Reference\<[Specimen](/medical-api/fhir/resources/specimen)>                      | Specimen used for sequencing                                                                                                                                       |
| device                | No       | Reference\<[Device](/medical-api/fhir/resources/device)>                          | The method for sequencing                                                                                                                                          |
| performer             | No       | Reference\<[Organization](/medical-api/fhir/resources/organization)>              | Who should be responsible for test result                                                                                                                          |
| quantity              | No       | [Quantity](/medical-api/fhir/data-types/quantity)                                 | The number of copies of the sequence of interest. (RNASeq)                                                                                                         |
| referenceSeq          | No       | MolecularSequenceReferenceSeq                                                     | A sequence used as reference                                                                                                                                       |
| - id                  | No       | string                                                                            | Unique id for inter-element referencing                                                                                                                            |
| - extension           | No       | [Extension](/medical-api/fhir/data-types/extension)\[]                            | Additional content defined by implementations                                                                                                                      |
| - modifierExtension   | No       | [Extension](/medical-api/fhir/data-types/extension)\[]                            | Extensions that cannot be ignored even if unrecognized                                                                                                             |
| - chromosome          | No       | [CodeableConcept](/medical-api/fhir/data-types/codeableconcept)                   | Chromosome containing genetic finding                                                                                                                              |
| - genomeBuild         | No       | string                                                                            | The Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37'                                                                                  |
| - orientation         | No       | code                                                                              | sense / antisense                                                                                                                                                  |
| - referenceSeqId      | No       | [CodeableConcept](/medical-api/fhir/data-types/codeableconcept)                   | Reference identifier                                                                                                                                               |
| - referenceSeqPointer | No       | Reference\<[MolecularSequence](/medical-api/fhir/resources/molecularsequence)>    | A pointer to another MolecularSequence entity as reference sequence                                                                                                |
| - referenceSeqString  | No       | string                                                                            | A string to represent reference sequence                                                                                                                           |
| - strand              | No       | code                                                                              | watson / crick                                                                                                                                                     |
| - windowStart         | No       | integer                                                                           | Start position of the window on the reference sequence                                                                                                             |
| - windowEnd           | No       | integer                                                                           | End position of the window on the reference sequence                                                                                                               |
| variant               | No       | MolecularSequenceVariant                                                          | Variant in sequence                                                                                                                                                |
| - id                  | No       | string                                                                            | Unique id for inter-element referencing                                                                                                                            |
| - extension           | No       | [Extension](/medical-api/fhir/data-types/extension)\[]                            | Additional content defined by implementations                                                                                                                      |
| - modifierExtension   | No       | [Extension](/medical-api/fhir/data-types/extension)\[]                            | Extensions that cannot be ignored even if unrecognized                                                                                                             |
| - start               | No       | integer                                                                           | Start position of the variant on the reference sequence                                                                                                            |
| - end                 | No       | integer                                                                           | End position of the variant on the reference sequence                                                                                                              |
| - observedAllele      | No       | string                                                                            | Allele that was observed                                                                                                                                           |
| - referenceAllele     | No       | string                                                                            | Allele in the reference sequence                                                                                                                                   |
| - cigar               | No       | string                                                                            | Extended CIGAR string for aligning the sequence with reference bases                                                                                               |
| - variantPointer      | No       | Reference\<[Observation](/medical-api/fhir/resources/observation)>                | Pointer to observed variant information                                                                                                                            |
| observedSeq           | No       | string                                                                            | Sequence that was observed                                                                                                                                         |
| quality               | No       | MolecularSequenceQuality                                                          | An set of value as quality of sequence                                                                                                                             |
| - id                  | No       | string                                                                            | Unique id for inter-element referencing                                                                                                                            |
| - extension           | No       | [Extension](/medical-api/fhir/data-types/extension)\[]                            | Additional content defined by implementations                                                                                                                      |
| - modifierExtension   | No       | [Extension](/medical-api/fhir/data-types/extension)\[]                            | Extensions that cannot be ignored even if unrecognized                                                                                                             |
| - type                | Yes      | code                                                                              | indel / snp / unknown                                                                                                                                              |
| - standardSequence    | No       | [CodeableConcept](/medical-api/fhir/data-types/codeableconcept)                   | Standard sequence for comparison                                                                                                                                   |
| - start               | No       | integer                                                                           | Start position of the sequence                                                                                                                                     |
| - end                 | No       | integer                                                                           | End position of the sequence                                                                                                                                       |
| - score               | No       | [Quantity](/medical-api/fhir/data-types/quantity)                                 | Quality score for the comparison                                                                                                                                   |
| - method              | No       | [CodeableConcept](/medical-api/fhir/data-types/codeableconcept)                   | Method to get quality                                                                                                                                              |
| - truthTP             | No       | decimal                                                                           | True positives from the perspective of the truth data                                                                                                              |
| - queryTP             | No       | decimal                                                                           | True positives from the perspective of the query data                                                                                                              |
| - truthFN             | No       | decimal                                                                           | False negatives                                                                                                                                                    |
| - queryFP             | No       | decimal                                                                           | False positives                                                                                                                                                    |
| - gtFP                | No       | decimal                                                                           | False positives where the non-REF alleles in the Truth and Query Call Sets match                                                                                   |
| - precision           | No       | decimal                                                                           | Precision of comparison                                                                                                                                            |
| - recall              | No       | decimal                                                                           | Recall of comparison                                                                                                                                               |
| - fScore              | No       | decimal                                                                           | F-score                                                                                                                                                            |
| - roc                 | No       | MolecularSequenceQualityRoc                                                       | Receiver Operator Characteristic (ROC) Curve                                                                                                                       |
| - id                  | No       | string                                                                            | Unique id for inter-element referencing                                                                                                                            |
| - extension           | No       | [Extension](/medical-api/fhir/data-types/extension)\[]                            | Additional content defined by implementations                                                                                                                      |
| - modifierExtension   | No       | [Extension](/medical-api/fhir/data-types/extension)\[]                            | Extensions that cannot be ignored even if unrecognized                                                                                                             |
| - score               | No       | integer\[]                                                                        | Genotype quality score                                                                                                                                             |
| - numTP               | No       | integer\[]                                                                        | Roc score true positive numbers                                                                                                                                    |
| - numFP               | No       | integer\[]                                                                        | Roc score false positive numbers                                                                                                                                   |
| - numFN               | No       | integer\[]                                                                        | Roc score false negative numbers                                                                                                                                   |
| - precision           | No       | decimal\[]                                                                        | Precision of the GQ score                                                                                                                                          |
| - sensitivity         | No       | decimal\[]                                                                        | Sensitivity of the GQ score                                                                                                                                        |
| - fMeasure            | No       | decimal\[]                                                                        | FScore of the GQ score                                                                                                                                             |
| readCoverage          | No       | integer                                                                           | Average number of reads representing a given nucleotide in the reconstructed sequence                                                                              |
| repository            | No       | MolecularSequenceRepository                                                       | External repository which contains detailed report related with observedSeq in this resource                                                                       |
| - id                  | No       | string                                                                            | Unique id for inter-element referencing                                                                                                                            |
| - extension           | No       | [Extension](/medical-api/fhir/data-types/extension)\[]                            | Additional content defined by implementations                                                                                                                      |
| - modifierExtension   | No       | [Extension](/medical-api/fhir/data-types/extension)\[]                            | Extensions that cannot be ignored even if unrecognized                                                                                                             |
| - type                | Yes      | code                                                                              | directlink / openapi / login / oauth / other                                                                                                                       |
| - url                 | No       | uri                                                                               | URI of the repository                                                                                                                                              |
| - name                | No       | string                                                                            | Repository's name                                                                                                                                                  |
| - datasetId           | No       | string                                                                            | Id of the dataset that used to call for dataset in repository                                                                                                      |
| - variantsetId        | No       | string                                                                            | Id of the variantset that used to call for variantset in repository                                                                                                |
| - readsetId           | No       | string                                                                            | Id of the read                                                                                                                                                     |
| pointer               | No       | Reference\<[MolecularSequence](/medical-api/fhir/resources/molecularsequence)>\[] | Pointer to next atomic sequence                                                                                                                                    |
| structureVariant      | No       | MolecularSequenceStructureVariant                                                 | Structural variant                                                                                                                                                 |
| - id                  | No       | string                                                                            | Unique id for inter-element referencing                                                                                                                            |
| - extension           | No       | [Extension](/medical-api/fhir/data-types/extension)\[]                            | Additional content defined by implementations                                                                                                                      |
| - modifierExtension   | No       | [Extension](/medical-api/fhir/data-types/extension)\[]                            | Extensions that cannot be ignored even if unrecognized                                                                                                             |
| - variantType         | No       | [CodeableConcept](/medical-api/fhir/data-types/codeableconcept)                   | Structural variant change type                                                                                                                                     |
| - exact               | No       | boolean                                                                           | Does the structural variant have base pair resolution breakpoints?                                                                                                 |
| - length              | No       | integer                                                                           | Structural variant length                                                                                                                                          |
| - outer               | No       | MolecularSequenceStructureVariantOuter                                            | Structural variant outer                                                                                                                                           |
| - id                  | No       | string                                                                            | Unique id for inter-element referencing                                                                                                                            |
| - extension           | No       | [Extension](/medical-api/fhir/data-types/extension)\[]                            | Additional content defined by implementations                                                                                                                      |
| - modifierExtension   | No       | [Extension](/medical-api/fhir/data-types/extension)\[]                            | Extensions that cannot be ignored even if unrecognized                                                                                                             |
| - start               | No       | integer                                                                           | Structural variant outer start                                                                                                                                     |
| - end                 | No       | integer                                                                           | Structural variant outer end                                                                                                                                       |
| - inner               | No       | MolecularSequenceStructureVariantInner                                            | Structural variant inner                                                                                                                                           |
| - id                  | No       | string                                                                            | Unique id for inter-element referencing                                                                                                                            |
| - extension           | No       | [Extension](/medical-api/fhir/data-types/extension)\[]                            | Additional content defined by implementations                                                                                                                      |
| - modifierExtension   | No       | [Extension](/medical-api/fhir/data-types/extension)\[]                            | Extensions that cannot be ignored even if unrecognized                                                                                                             |
| - start               | No       | integer                                                                           | Structural variant inner start                                                                                                                                     |
| - end                 | No       | integer                                                                           | Structural variant inner end                                                                                                                                       |

## Search Parameters

| Name                              | Type      | Description                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                           | Expression                                    |
| --------------------------------- | --------- | --------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- | --------------------------------------------- |
| chromosome                        | token     | Chromosome number of the reference sequence                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                           | MolecularSequence.referenceSeq.chromosome     |
| identifier                        | token     | The unique identity for a particular sequence                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                         | MolecularSequence.identifier                  |
| patient                           | reference | The subject that the observation is about                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                             | MolecularSequence.patient                     |
| referenceseqid                    | token     | Reference Sequence of the sequence                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                    | MolecularSequence.referenceSeq.referenceSeqId |
| type                              | token     | Amino Acid Sequence/ DNA Sequence / RNA Sequence                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                      | MolecularSequence.type                        |
| variant-end                       | number    | End 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-start                     | number    | Start 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-end                        | number    | End 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-start                      | number    | Start 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-coordinate     | composite | Search 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-coordinate      | composite | Search 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-coordinate | composite | Search 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-coordinate  | composite | Search 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                |

## Inherited Properties

| Name              | Required | Type                                                   | Description                                            |
| ----------------- | -------- | ------------------------------------------------------ | ------------------------------------------------------ |
| id                | No       | string                                                 | Logical id of this artifact                            |
| meta              | No       | [Meta](/medical-api/fhir/data-types/meta)              | Metadata about the resource                            |
| implicitRules     | No       | uri                                                    | A set of rules under which this content was created    |
| language          | No       | code                                                   | Language of the resource content                       |
| text              | No       | [Narrative](/medical-api/fhir/data-types/narrative)    | Text summary of the resource, for human interpretation |
| contained         | No       | Resource\[]                                            | Contained, inline Resources                            |
| extension         | No       | [Extension](/medical-api/fhir/data-types/extension)\[] | Additional content defined by implementations          |
| modifierExtension | No       | [Extension](/medical-api/fhir/data-types/extension)\[] | Extensions that cannot be ignored                      |

To view the FHIR specification for this resource, see [MolecularSequence](https://www.hl7.org/fhir/StructureDefinition/MolecularSequence).
