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Larkin et al. also found enrichments of structural variants (segmental duplications, copy number variants, and indels), retrotransposed genes and zinc finger genes in EBRs that are shared among multiple species.
Innovations add a TFBS of any possible type, whereas duplications copy and add a TFBS of a currently present type.
Duplications (copy number 3), triplications (copy number 4) as well as deletions accompanied with loss of heterozygosity (copy number 1) were observed from dosage plots.
Although overall coverage varied considerably, it was reproducible per region and facilitated the detection of large deletions and duplications (copy number variations), including a partial deletion in the B3GALTL gene from a patient sample.
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We also analyzed the distribution of genomic component, such as segmental duplication, copy number variation regions and ultra conserved elements, which are closely related to conservation.
In this model, a first phase of duplications copies duplicons from the ancestral genome and aggregates these copies into primary duplication blocks.
Using a protein protein interaction network, He and Zhang (2005) showed that after gene duplication, duplicate copies can have rapid "subfunctionalization" accompanied by prolonged "neofunctionalization" during evolution.
Additionally, autistic individuals from enrolled SSC families exhibit genetic deletions, duplications, and copy number variants (CNVs) that are not present in unaffected family members.
The importance of segmental duplications and copy number variants as a source of genetic and phenotypic variation is gaining greater appreciation, in a variety of organisms.
Primate-specific chromosomal rearrangements were however found to occur preferentially in regions containing segmental duplications and copy number variants.
The remaining 25 Mbp of euchromatic gaps are often associated with segmental duplications and copy number variations between subjects used for the reference sequencing [ 30].
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