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- Publisher
- Springer Journals
- Copyright
- Copyright © 2007 by Nature Publishing Group
- Subject
- Biomedicine; Biomedicine, general; Human Genetics; Cancer Research; Agriculture; Gene Function; Animal Genetics and Genomics
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- DOI
- 10.1038/ng2084
- Publisher site
- See Article on Publisher Site
Abstract
Many clinical phenotypes occur sporadically despite genetics contributing partly or entirely to their cause. To what extent are de novo mutations the cause of sporadic traits? Locus-specific mutation rates for genomic rearrangements appear to be two to four orders of magnitude greater than nucleotide-specific rates for base substitutions. Widespread implementation of high-resolution genome analyses to detect de novo copy-number variation may identify the cause of traits previously intractable to conventional genetic analyses.
Journal
Nature Genetics – Springer Journals
Published: Jun 27, 2007