Detection of large-scale variation in the human genome
AJ Iafrate, L Feuk, MN Rivera, ML Listewnik… - Nature …, 2004 - nature.com
Nature genetics, 2004•nature.com
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.
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.
Abstract
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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