Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y. et al. Detection of large-scale variation in the human genome. Nat. Genet. 36, 949-951

University of Toronto, Toronto, Ontario, Canada
Nature Genetics (Impact Factor: 29.35). 10/2004; 36(9):949-51. DOI: 10.1038/ng1416
Source: PubMed


We identified 255 loci across the human genome that contain genomic imbalances among unrelated individuals. Twenty-four variants are present in > 10% of the individuals that we examined. Half of these regions overlap with genes, and many coincide with segmental duplications or gaps in the human genome assembly. This previously unappreciated heterogeneity may underlie certain human phenotypic variation and susceptibility to disease and argues for a more dynamic human genome structure.

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    • " ) . There is also an inactive pseudogene , AMYP1 , located within the amylase gene cluster . The haplotype structures of this multigene family are complex and incompletely ascertained , but it is known that there is significant vari - ability in the total number of AMY1 genes ( Gumucio et al . 1988 ; Samuelson et al . 1988 ; Groot et al . 1989a ; Lafrate et al . 2004 ; Perry et al . 2007 ; Carpenter et al . 2015 ) , as well as some variability in the copy number of AMY2 genes ( Carpenter et al . 2015 ) . Humans are unusual in that they have high levels of the salivary ␣ - amylase , apparently due mostly to multiple copies of AMY1 genes . Among pri - mates , multiple copy numbers of AMY1 genes have b"
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    • "Initially, for different species such as human (Homo sapiens) (Iafrate et al., 2004), rice (Oryza sativa) (Yu et al., 2013), soybean (Glycine max) (McHale et al., 2012), and barley (Hordeum vulgare) (Muñoz-Amatriaín et al., 2013), the majority of SVs were detected by microarray-based comparative genomic hybridization. However , array-based technology can only detect SVs with sequences that are homologous to probes and cannot determine the exact copy number or breakpoint. "
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