Genome structural variation and sporadic disease traits
James R Lupski
James R. Lupski is in the Department of Molecular and Human Genetics and the Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA. jlupski@bcm.tmc.edu
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.
MORE ARTICLES LIKE THIS
These links to content published by NPG are automatically generated.
