Allele
One of a number of alternative forms of the same gene or the same genetic locus.
Allele specific SNP analytics
Determining on which allele (maternal or paternal) a certain genetic variation(s) is located.
Biomarker
A characteristic that is measured and evaluated as an indicator of normal biologic processes, pathogenic processes or pharmacological responses to a therapeutic intervention.
Clinical sensitivity
The proportion of individuals with a specified clinical disorder or clinical effect whose test values indicate that the disorder or clinical effect is present (e.g. the mutation associated with the disorder is identified).
Clinical specificity
The proportion of individuals who do not have a specified clinical disorder or effect and whose test results indicate that the disorder or clinical effect is not present.
Epigenetics
Changes to the genome that do not involve a change in the nucleotide sequence, e.g., DNA methylation or histone modification.
Epigenomic biomarkers
DNA sequences where the extent of specific cytosine methylation or hydroxymethylation can provide useful information.
Functional polymorphism
A polymorphism that has been shown to alter enzyme or protein activity and/or the clinical disposition of drugs.
Gene
A locatable region of genomic sequence, corresponding to a unit of inheritance.
Genomic biomarker
A measurable DNA and/or RNA characteristic that is an indicator of normal biologic processes, pathogenic processes, and/or response to therapeutic or other interventions.
Genotype
The combination of alleles (maternal and paternal) that determine the expression of a particular phenotype.
Genetic biomarker
A gene or DNA sequence with a known location on a chromosome that can be used to identify individuals or species. A genetic marker may be a short DNA sequence, such as a sequence surrounding a single base-pair change (single nucleotide polymorphism, SNP), or a long one, like mini satellites.
Genetic subpopulation
Subdivision of the whole population, with common, distinguishing genetic characteristics. These characteristics may include both the phenotype, e.g. poor metaboliser, as well as the genotype, e.g., CYP2D6*4.
Germline DNA
The DNA in germ cells (egg and sperm cells that join to form an embryo). Germline DNA is the source of DNA for all other cells in the body. Also called constitutional DNA.
Haplotype
A combination of alleles at different loci on the chromosome that are transmitted together.
Intermediate precision
The within-laboratory variation of repeat test results with one test system (different days, different analysts, different equipment).
Pharmacogenetics
The study of variations in DNA sequence as related to drug response (ICH E15). CIOMS VII (2005): the study of interindividual variations in DNA sequence related to drug disposition (pharmacokinetics) or drug action (pharmacodynamics) that can influence clinical response.
Pharmacogenomics
The study of variations of DNA and RNA characteristics as related to drug response (ICH E15). CIOMS VII (2005): the application of genomic technologies to elucidate disease susceptibility, drug discovery, pharmacological function, drug disposition and therapeutic response.
Phenotype
Observable characteristics influenced by genotype and by other additional factors, e.g., the environment.
Polymorphism
Occurrence of more than one form (or morph) of a (functional) phenotype in a frequency that is stable in different populations, and a frequency above 1%.
Rare variant
Allelic variation with a frequency of <1 %.
Repeatability
The precision under the same operating conditions over a short interval of time (intra-assay precision).
Reproducibility
The inter-laboratory precision, which may be determined as the variation of repeat test results for one test system in different laboratories (intra platform variation) or for different test systems (inter-platform precision).
Somatic DNA
DNA from cells that make up all the internal organs, like bones, blood and connective tissue.
WES
Whole exome sequencing. Sequence by NGS all protein-coding exomes after capture utilizing hybridization to a whole-exome bait set designed to enrich DNAs in all protein coding portion of the genome.
WGS
Whole genome sequencing. Sequencing of the entire genome, usually via a random fragment (shotgun) and to sufficient coverage to ensure adequate representation of all alleles.
Read also: Impact of Genomic Variation on Drug Response