Detection of large-scale variation in the human genome

University of Toronto, Toronto, Ontario, Canada
Nature Genetics (Impact Factor: 29.65). 10/2004; 36(9):949-51. DOI: 10.1038/ng1416
Source: PubMed

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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May 31, 2014