http://hl7.org/fhir/genomicstudy-type|5.0.0

name
GenomicStudyType

package
hl7.fhir.r5.core@5.0.0

content
complete

experimental
true

status
active

date
2022-08-17 21:19:24.0

Genomic Study Type

The type relevant to GenomicStudy.

Concepts $lookup $validate-code JSON Properties Suppliments Other Versions Dependant (0)

code	display	definition	hierarchy
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 ...
epi-alt-hist	Epigenetic Alterations - histone modifications	Detection of biochemical modifications covalently bound to the N-terminal tail of a histone protein....
epi-alt-dna	Epigenetic Alterations -DNA methylation	Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene tr...
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 compare...
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 pr...
snp	SNP Detection	Determination of which nucleotide is base present at a known variable location of the genomic sequen...
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 sequ...