Detection of large-scale variation in the human genome
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Open Access
- 1 August 2004
- journal article
- research article
- Published by Springer Science and Business Media LLC in Nature Genetics
- Vol. 36 (9), 949-951
- https://doi.org/10.1038/ng1416
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.Keywords
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