GenomicStudyType

Genomic Study Type

activeExtensions for Using Data Elements from FHIR R5 in FHIR R40.1.0complete12 concepts

The type relevant to GenomicStudy.

Metadata

hl7.org/fhir
Canonical URL
http://hl7.org/fhir/genomicstudy-type
ID
genomicstudy-type
Version
5.0.0
Publisher
Clinical Genomics
Case Sensitive
Yes

Concepts (12)

CodeDisplayDefinition
alt-splcAlternative splicing detectionIdentification of multiple different processed mRNA transcripts from the same DNA template
chromatinChromatin conformationAnalysis of the spacial organization of chromatin within a cell
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
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
epi-alt-dnaEpigenetic Alterations -DNA methylationDetection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription
fam-var-segrFamilial variant segregationDetermining if a variant identified in an individual is present in other family members
func-varFunctional variation detectionDetection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence
gene-expressionGene expression profilingMeasurement and characterization of activity from all gene products
post-trans-modPost-translational Modification IdentificationDetection of biochemical modifications covalently bound to the amino acid monomers of a processed protein
snpSNP DetectionDetermination of which nucleotide is base present at a known variable location of the genomic sequence
strSTR countQuantification of the number of sequential microsatellite units in a repetitive sequence region
struc-varStructural variation detectionDetection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence