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Genome structural variation and sporadic disease traits

  • James R. Lupski [1]
    1. [1] Baylor College of Medicine

      Baylor College of Medicine

      Estados Unidos

  • Localización: Nature genetics, ISSN 1061-4036, Vol. 38, Nº. 9, 2006, págs. 974-976
  • Idioma: inglés
  • Texto completo no disponible (Saber más ...)
  • Resumen
    • 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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