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.