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- Title
Genomic rearrangements and sporadic disease.
- Authors
Lupski, James R
- 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.
- Publication
Nature genetics, 2007, Vol 39, Issue 7 Suppl, pS43
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng2084