Genomics Reporting Implementation Guide
4.0.0-ballot - STU 4 ballot
Genomics Reporting Implementation Guide
4.0.0-ballot - STU 4 ballot
Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-ballot built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
| Official URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics | Version: 4.0.0-ballot | |||
| Standards status: Trial-use | Maturity Level: 2 | Computable Name: GenomicStudyAnalysisMetrics | ||
Metrics about the sequencing analysis that was performed
Context of Use
This extension may be used on the following element(s):
This extension is used for overall, analysis level metrics. These metrics are not specific to a region that is studied in the analysis. The metrics here are specific to sequencing analysis, but others could be added if they make sense to the use case.
Usage info
Usages:
Description of Profiles, Differentials, Snapshots, and how the XML and JSON presentations work.
This structure is derived from Extension
Summary
Complex Extension: Metrics about the sequencing analysis that was performed
Maturity: 2
This structure is derived from Extension
| Name | Flags | Card. | Type | Description & Constraints Filter:   |
|---|---|---|---|---|
  Extension |
0..* | Extension | Genomic Study Analysis Metrics | |
  Slices for extension |
Content/Rules for all slices | |||
   extension:read-depth |
0..1 | Extension | Read Depth | |
   extension |
0..0 | |||
| url |
1..1 | uri | "read-depth" | |
  value[x] |
0..1 | SimpleQuantity | 30, 100 | |
| extension:sequencing-coverage |
0..1 | Extension | Sequencing Coverage | |
| extension |
0..0 | |||
| url |
1..1 | uri | "sequencing-coverage" | |
| value[x] |
0..1 | SimpleQuantity | 95, 100 | |
 extension:metrics-description |
0..1 | Extension | Metrics Description | |
 extension |
0..0 | |||
| url |
1..1 | uri | "metrics-description" | |
 value[x] |
0..1 | string | Value of extension | |
 url |
1..1 | uri | "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics" | |
 value[x] |
0..0 | |||
| Documentation for this format | ||||
| Name | Flags | Card. | Type | Description & Constraints Filter: |
|---|---|---|---|---|
| Extension |
0..* | Extension | Genomic Study Analysis Metrics | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| Slices for extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| extension:read-depth |
0..1 | Extension | Read Depth | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..0 | |||
| url |
1..1 | uri | "read-depth" | |
| value[x] |
0..1 | SimpleQuantity | 30, 100 | |
| extension:sequencing-coverage |
0..1 | Extension | Sequencing Coverage | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..0 | |||
| url |
1..1 | uri | "sequencing-coverage" | |
| value[x] |
0..1 | SimpleQuantity | 95, 100 | |
| extension:metrics-description |
0..1 | Extension | Metrics Description | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..0 | |||
| url |
1..1 | uri | "metrics-description" | |
| value[x] |
0..1 | string | Value of extension | |
| url |
1..1 | uri | "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics" | |
| Documentation for this format | ||||
This structure is derived from Extension
Summary
Complex Extension: Metrics about the sequencing analysis that was performed
Maturity: 2
Differential View
This structure is derived from Extension
| Name | Flags | Card. | Type | Description & Constraints Filter: |
|---|---|---|---|---|
| Extension |
0..* | Extension | Genomic Study Analysis Metrics | |
| Slices for extension |
Content/Rules for all slices | |||
| extension:read-depth |
0..1 | Extension | Read Depth | |
| extension |
0..0 | |||
| url |
1..1 | uri | "read-depth" | |
| value[x] |
0..1 | SimpleQuantity | 30, 100 | |
| extension:sequencing-coverage |
0..1 | Extension | Sequencing Coverage | |
| extension |
0..0 | |||
| url |
1..1 | uri | "sequencing-coverage" | |
| value[x] |
0..1 | SimpleQuantity | 95, 100 | |
| extension:metrics-description |
0..1 | Extension | Metrics Description | |
| extension |
0..0 | |||
| url |
1..1 | uri | "metrics-description" | |
| value[x] |
0..1 | string | Value of extension | |
| url |
1..1 | uri | "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics" | |
| value[x] |
0..0 | |||
| Documentation for this format | ||||
Snapshot View
| Name | Flags | Card. | Type | Description & Constraints Filter: |
|---|---|---|---|---|
| Extension |
0..* | Extension | Genomic Study Analysis Metrics | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| Slices for extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| extension:read-depth |
0..1 | Extension | Read Depth | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..0 | |||
| url |
1..1 | uri | "read-depth" | |
| value[x] |
0..1 | SimpleQuantity | 30, 100 | |
| extension:sequencing-coverage |
0..1 | Extension | Sequencing Coverage | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..0 | |||
| url |
1..1 | uri | "sequencing-coverage" | |
| value[x] |
0..1 | SimpleQuantity | 95, 100 | |
| extension:metrics-description |
0..1 | Extension | Metrics Description | |
| id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..0 | |||
| url |
1..1 | uri | "metrics-description" | |
| value[x] |
0..1 | string | Value of extension | |
| url |
1..1 | uri | "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics" | |
| Documentation for this format | ||||
Other representations of profile: CSV, Excel, Schematron
| Id | Grade | Path(s) | Details | Requirements |
| ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both : extension.exists() != value.exists() |
IG © 2022+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#4.0.0-ballot based on FHIR 4.0.1. Generated 2025-06-24
Links: Table of Contents |
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