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Nat Genet. 2007 Jul;39(7 Suppl):S43-7.

Genomic rearrangements and sporadic disease.

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  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, 604B; and Texas Children's Hospital; Houston, Texas 77030, USA.


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.

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