Genome structural variation and sporadic disease traits (original) (raw)

Nature Genetics volume 38, pages 974–976 (2006)Cite this article

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.

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Figure 1: Genomic architecture, rearrangements and marker genotypes at 17q21.31.

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Authors and Affiliations

  1. Department of Molecular and Human Genetics and the Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA
    James R Lupski

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  1. James R Lupski
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Lupski, J. Genome structural variation and sporadic disease traits.Nat Genet 38, 974–976 (2006). https://doi.org/10.1038/ng0906-974

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