Clinical Genomics Resource Incubator
0.1.0-ci-build - CI Build
World
Clinical Genomics Resource Incubator
0.1.0-ci-build - CI Build
World
Clinical Genomics Resource Incubator, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/cg-incubator/ and changes regularly. See the Directory of published versions
| Page standards status: Informative |
Language: en
identifier: http://example.org/identifiers/genomicstudies/urn:uuid:somatic-study-0001 (use: temp, )
status: Available
type: My Test Cancer 700 Gene Panel
startDate: 2023-02-02
basedOn: ServiceRequest
interpreter: Practitioner Jane Doel
| Concept |
| Adenocarcinoma of lung, stage IV (disorder) |
note:
I. Assay Overview: The Genomic Cancer Testing Assay is a comprehensive molecular examination designed to detect and quantify specific DNA and RNA alterations associated with malignancies. The test incorporates Next Generation Sequencing (NGS) technology to profile tumor samples. II. Target Genes and Biomarkers: This assay evaluates an extensive panel of cancer-related genes. Sample Type: Formalin-fixed, paraffin-embedded (FFPE) tumor tissue. Sequencing Platform: Illumina-based NGS technology. Sensitivity: Detects variants with a mutant allele frequency (MAF) as low as 5%. Results are delivered within 10-14 working days from sample receipt.
description:
Comprehensive somatic genomic profiling of lung adenocarcinoma (stage IV) using a 700-gene panel. Includes paired tumor/normal DNA sequencing for SNV, MNV, InDel and CNV detection, and RNA sequencing for gene fusion and transcript variant detection.
analysis
identifier:
http://example.org/identifiers/genomicAnalyses/urn:uuid:somatic-analysis-dna-0001 (use: temp, )methodType: Sequence analysis of the entire coding region, Deletion/duplication analysis
changeType: SNV, MNV, delins, copy_number_variation
genomeBuild: GRCh38
title: Tumor/Normal Paired DNA Sequencing - SNV, MNV, InDel, CNV
specimen:
- Specimen: identifier = http://example.org/identifiers/specimens#222333; status = available; type = Specimen from lung obtained by biopsy (specimen); receivedTime = 2023-01-23 01:01:01+0000; note = FFPE tumor tissue. Tumor cellularity: 20%.
- Specimen: identifier = http://example.org/identifiers/specimens#444555; status = available; type = Blood specimen (specimen); receivedTime = 2023-01-23 01:01:01+0000; note = Matched normal blood specimen for tumor/normal paired sequencing.
date: 2023-02-02 01:01:10-0600
note:
For technical reasons, BCR gene was deemed uncallable.
Outputs
Performers
Actor Role Practitioner Jane Doel Performer Devices
Device Function Device: identifier = http://example.org/identifiers/devices#11111; status = active; manufacturer = Illumina; type = Device (physical object) Sequencing
analysis
identifier:
http://example.org/identifiers/genomicAnalyses/urn:uuid:somatic-analysis-rna-0001 (use: temp, )methodType: RNA analysis
changeType: gene_fusion, transcript_variant
title: Tumor RNA Sequencing - Gene Fusions and Transcript Variants
date: 2023-02-02 01:01:10-0600
Outputs
Performers
Actor Role Practitioner Jane Doel Performer Devices
Device Function Device: identifier = http://example.org/identifiers/devices#11111; status = active; manufacturer = Illumina; type = Device (physical object) Sequencing
IG © 2026+ HL7 International / Clinical Genomics.
Package hl7.fhir.uv.cg-incubator#0.1.0-ci-build based on FHIR 6.0.0-ballot5.
Generated
2026-09-08
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