Genomic Biomarker

A measurable DNA or RNA characteristic that is an indicator of normal biologic processes, pathogenic processes, and/or response to therapeutic or other intervention. The definition for a genomic biomarker is not limited to human samples. A genomic biomarker could, for example, reflect: the expression of a gene; the function of a gene; the regulation of a gene. A genomic biomarker can consist of one or more deoxyribonucleic acid (DNA) or ribonucleic acid (RNA) characteristics. The definition for a genomic biomarker does not include the measurement and characterisation of proteins or low molecular weight metabolites. DNA characteristics include, but are not limited to: single nucleotide polymorphisms (SNPs); variability of short sequence repeats; DNA modification, e.g., methylation; insertions; deletions; copy number variation; cytogenetic rearrangements, e.g., translocations, duplications, deletions or inversions. RNA characteristics include, but are not limited to: RNA sequence; RNA expression levels; RNA processing, e.g., splicing and editing; microRNA levels (ICH Draft Consensus Guideline E15). (NCI Thesaurus)

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The number of DNA sequence copies found over the entire genome of an individual.

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A study that compares DNA markers across the genome (the complete genetic material in a person) in people with a disease or…

Genome sequence

The ordered set of base-pairs that constitute the genetic code in a particular sample of DNA or RNA.

Genome Scan

To analyse the entire genome (total genetic complement) of an individual, organism, cell or tissue.

Genome Assembly Sequence

An annotated assembly of genome sequences created by the assimilation of data pieces from numerous sources.

Genome

A single set of chromosomes and their genes; the genetic code for a particular individual.