title: Genomic rearrangements and sporadic disease.
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.
authors.affiliation: Department 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
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
mesh_terms: D019457:Chromosome Breakage; D018628:Gene Dosage; D015321:Gene Rearrangement; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D014644:Genetic Variation; D023281:Genomics; D006801:Humans; D009154:Mutation; D010641:Phenotype