Duplication
Functional diversity : Genomic variation in regions underpinning phenotypic traits, may occur directly in genes or within regulatory elements. Variation in these regions can have consequences for individual fitness.
Genome-wide diversity: Genomic variation inclusive of functional and neutral diversity. The sum of all variation within the genome.
Gene dosage : The number of copies of a gene, may vary among individuals should mutations inactivate, delete or duplicate genes.
Genome graph : A representation of multiple possible sequences (i.e., a pangenome).
Haploinsufficiency : When one chromosomal copy of a gene is inactivated or deleted completely and the remaining copy is unable to produce sufficient gene product to maintain normal function.
Insertion : A chromosomal rearrangement where a sequence of DNA is ‘inserted’ into the original sequence. May also be defined as a sequence of DNA present in an individual that is missing in the reference. The inverse of a deletion.
Inversion : A chromosomal rearrangement where a section of the DNA is reversed in order in an individual compared to a reference.
Neutral diversity : Genomic variation that does not impact fitness, most variation in the genome is neutral.
Pangenome : A reference genome approach where the genomes of multiple individuals are assembled and aligned to form genome graphs. A pangenome is divided into variable ‘accessory’ and invariable ‘core’ components, with the goal to characterize all the variation present within a group of interest. Currently the scale of pangenome projects range from populations/strains to subfamilies.
Regulatory element : Regions of non-coding DNA involved in the regulation of gene expression, the two primary regulatory elements are enhancers and promoters.