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- Title
Detection of large-scale variation in the human genome.
- Authors
Iafrate, A John; Feuk, Lars; Rivera, Miguel N; Listewnik, Marc L; Donahoe, Patricia K; Qi, Ying; Scherer, Stephen W; Lee, Charles
- 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.
- Publication
Nature genetics, 2004, Vol 36, Issue 9, p949
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1416