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

CodeSystem: Genomic Study Type (Experimental)

Official URL: http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-type Version: 0.1.0-ci-build
Standards status: Draft Draft as of 2022-08-17 Maturity Level: 1 Computable Name: GenomicStudyType
Other Identifiers: OID:2.16.840.1.113883.4.642.4.1975

The type relevant to GenomicStudy.

This Code system is referenced in the definition of the following value sets:

Last updated: 2022-08-17 16:18:24-0500

Profile: Shareable CodeSystem

This case-sensitive code system http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-type defines the following codes:

CodeDisplayDefinition
alt-splc Alternative splicing detection Identification of multiple different processed mRNA transcripts from the same DNA template
chromatin Chromatin conformation Analysis of the spacial organization of chromatin within a cell
cnv CNV detection Detection 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
epi-alt-hist Epigenetic Alterations - histone modifications Detection of biochemical modifications covalently bound to the N-terminal tail of a histone protein. These modifications may alter chromatin compaction and gene expression
epi-alt-dna Epigenetic Alterations -DNA methylation Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription
fam-var-segr Familial variant segregation Determining if a variant identified in an individual is present in other family members
func-var Functional variation detection Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence
gene-expression Gene expression profiling Measurement and characterization of activity from all gene products
post-trans-mod Post-translational Modification Identification Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein
snp SNP Detection Determination of which nucleotide is base present at a known variable location of the genomic sequence
str STR count Quantification of the number of sequential microsatellite units in a repetitive sequence region
struc-var Structural variation detection Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence
trio Trio analysis Analysis involving a child and both parents to identify inherited and de novo variants

Description of the above table(s).