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In the human genome project the human genome was successfully sequenced, which provided a reference human genome for comparison of genetic variation. With improving sequencing technologies and the reference genome, more and more variations were found of several different sizes that were larger than 1 kb but smaller than microscopic variants.
An inversion is a chromosome rearrangement in which a segment of a chromosome becomes inverted within its original position. An inversion occurs when a chromosome undergoes a two breaks within the chromosomal arm, and the segment between the two breaks inserts itself in the opposite direction in the same chromosome arm.
Some structural variants are associated with genetic diseases, however most are not. [3] [4] Approximately 13% of the human genome is defined as structurally variant in the normal population, and there are at least 240 genes that exist as homozygous deletion polymorphisms in human populations, suggesting these genes are dispensable in humans. [4]
For different genome types, different mutation types are suitable. Some mutations are Gaussian, Uniform, Zigzag, Scramble, Insertion, Inversion, Swap, and so on. [ 4 ] [ 5 ] [ 6 ] An overview and more operators than those presented below can be found in the introductory book by Eiben and Smith [ 7 ] or in. [ 3 ] [ 8 ]
The human genome was the first of all vertebrates to be sequenced to such near-completion, and as of 2018, the diploid genomes of over a million individual humans had been determined using next-generation sequencing. [61] These data are used worldwide in biomedical science, anthropology, forensics and other branches of science.
Approximately two-thirds of the entire human genome may be composed of repeats [3] and 4.8–9.5% of the human genome can be classified as copy number variations. [4] In mammals, copy number variations play an important role in generating necessary variation in the population as well as disease phenotype. [1]
The first fusion gene [1] was described in cancer cells in the early 1980s. The finding was based on the discovery in 1960 by Peter Nowell and David Hungerford in Philadelphia of a small abnormal marker chromosome in patients with chronic myeloid leukemia—the first consistent chromosome abnormality detected in a human malignancy, later designated the Philadelphia chromosome. [3]
The Human Genome Project was a landmark genome project. There are numerous related projects that deal with genetic variation (or variation in the encoded proteins), e.g. organized by the following organizations: HUman Genome Organisation (HUGO) -- organizes activities around human genome sequencing, including variants; Human Genome Variation ...