GenomicStudyType

Genomic Study Type

activeExperimentalcomplete12 conceptsv5.0.0

The type relevant to GenomicStudy.

Metadata

hl7.org/fhir
Canonical URL
http://hl7.org/fhir/genomicstudy-type
All-Codes Value Set
http://hl7.org/fhir/ValueSet/genomicstudy-type
ID
genomicstudy-type
Version
5.0.0
Publisher
HL7 (FHIR Project)
Case Sensitive
Yes
In the unified registry

Concepts (12)

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