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Updated: Jul 14, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Genomic rearrangements and sporadic disease
1Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, 604B; and Texas Children's Hospital; Houston, Texas 77030, USA. 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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