Resumen de Genome structural variation and sporadic disease traits

James R. Lupski

• Many submicroscopic genomic rearrangements have been robustly associated with well-defined clinical syndromes. Three papers in this issue once again illustrate how underlying genomic architecture can catalyze rearrangement causing sporadic disease, and they further suggest that widespread clinical implementation of high-resolution genome analysis may identify the cause of traits previously intractable to conventional genetic analyses.