Genomic rearrangements and sporadic disease
James R Lupski1
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James R. Lupski is in the Department of Molecular and Human Genetics and Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, 604B; and Texas Children's Hospital; Houston, Texas 77030, USA.
e-mail: jlupski@bcm.tmc.edu
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.
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