4.4.1.216 ValueSet http://hl7.org/fhir/ValueSet/genomicstudy-type

Identification of multiple different processed mRNA transcripts from the same DNA template

Analysis of the spacial organization of chromatin within a cell

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

Detection of biochemical modifications covalently bound to the N-terminal tail of a histone protein. These modifications may alter chromatin compaction and gene expression

Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription

Determining if a variant identified in an individual is present in other family members

Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence

Measurement and characterization of activity from all gene products

Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein

Determination of which nucleotide is base present at a known variable location of the genomic sequence

Quantification of the number of sequential microsatellite units in a repetitive sequence region

Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence