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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.
Some of genome browsers and bioinformatic databases have a list of structural variations in human genome with an emphasis on CNVs, and can show them in the genome browsing page, for example, UCSC Genome Browser. [27] Under the page viewing a part of the genome, there are "Common Cell CNVs" and "Structural Var" which can be enabled.
Copy number variation is a type of structural variation: specifically, it is a type of duplication or deletion event that affects a considerable number of base pairs. [2] 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]
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
Researchers published the first sequence-based map of large-scale structural variation across the human genome in the journal Nature in May 2008. [ 80 ] [ 81 ] Large-scale structural variations are differences in the genome among people that range from a few thousand to a few million DNA bases; some are gains or losses of stretches of genome ...
Indel (insertion-deletion) is a molecular biology term for an insertion or deletion of bases in the genome of an organism. Indels ≥ 50 bases in length are classified as structural variants. [1] [2] In coding regions of the genome, unless the length of an indel is a multiple of 3, it will produce a frameshift mutation.
Genomics is an interdisciplinary field of molecular biology focusing on the structure, function, evolution, mapping, and editing of genomes.A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, three-dimensional structural configuration.
Since the completion of the Human Genome Project advances in human population genetics and comparative genomics enabled further insight into genetic diversity. [7] The understanding about structural variations (insertions/deletions (), copy number variations (CNV), retroelements), single-nucleotide polymorphisms (SNPs), and natural selection were being solidified.