Clinical Genomics Resource Incubator
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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

ValueSet: Genomic Study Type VS (Experimental)

Official URL: http://hl7.org/fhir/uv/cg-incubator/ValueSet/genomicstudy-type Version: 0.1.0-ci-build
Standards status: Draft Draft as of 2022-08-17 Maturity Level: 1 Computable Name: GenomicStudyTypeVS
Other Identifiers: OID:2.16.840.1.113883.4.642.3.3082

The type of the GenomicStudy.

References

Logical Definition (CLD)

Last updated: 2022-08-17 16:25:24-0500

Profile: Shareable ValueSet

 

Expansion

Expansion performed internally based on codesystem Genomic Study Type v0.1.0-ci-build (CodeSystem)

This value set contains 13 concepts

SystemCodeDisplay (en)DefinitionJSONXML
http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-type  alt-splcAlternative splicing detectionIdentification of multiple different processed mRNA transcripts from the same DNA template
http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-type  chromatinChromatin conformationAnalysis of the spacial organization of chromatin within a cell
http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-type  cnvCNV detectionDetection of a change in the number of copies of a defined region of genomic DNA sequence resulting in structural variation when compared to the reference sequence
http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-type  epi-alt-histEpigenetic Alterations - histone modificationsDetection of biochemical modifications covalently bound to the N-terminal tail of a histone protein. These modifications may alter chromatin compaction and gene expression
http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-type  epi-alt-dnaEpigenetic Alterations -DNA methylationDetection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription
http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-type  fam-var-segrFamilial variant segregationDetermining if a variant identified in an individual is present in other family members
http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-type  func-varFunctional variation detectionDetection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence
http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-type  gene-expressionGene expression profilingMeasurement and characterization of activity from all gene products
http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-type  post-trans-modPost-translational Modification IdentificationDetection of biochemical modifications covalently bound to the amino acid monomers of a processed protein
http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-type  snpSNP DetectionDetermination of which nucleotide is base present at a known variable location of the genomic sequence
http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-type  strSTR countQuantification of the number of sequential microsatellite units in a repetitive sequence region
http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-type  struc-varStructural variation detectionDetection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence
http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-type  trioTrio analysisAnalysis involving a child and both parents to identify inherited and de novo variants

Description of the above table(s).