Journal
NATURE GENETICS
Volume 39, Issue -, Pages S43-S47Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng2084
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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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