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Letter

Nature Genetics 38, 1038–1042 (1 September 2006) | doi:10.1038/ng1862

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

Andrew J Sharp , Sierra Hansen , Rebecca R Selzer , Ze Cheng , Regina Regan , Jane A Hurst , Helen Stewart , Sue M Price , Edward Blair , Raoul C Hennekam , Carrie A Fitzpatrick , Rick Segraves , Todd A Richmond , Cheryl Guiver , Donna G Albertson , Daniel Pinkel , Peggy S Eis , Stuart Schwartz , Samantha J L Knight & Evan E Eichler

Genomic disorders are characterized by the presence of flanking segmental duplications that predispose these regions to recurrent rearrangement. Based on the duplication architecture of the genome, we investigated 130 regions that we hypothesized as candidates for previously undescribed genomic disorders.