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Special issue on structural genomic alterations: ready for prime time
  1. Constantin Polychronakos
  1. Correspondence to Dr Constantin Polychronakos, Department of Pediatrics/Human Genetics, McGill University Health Center, 2300 Tupper, Montreal, Canada; constantin.polychronakos{at}

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It is difficult to believe how astonishing the idea appeared, only five short years ago, that megabase-scale structural changes in the genome, until then believed to be confined to rare contiguous-gene syndromes, are actually plentiful in phenotypically healthy individuals.1 Routine use of high-resolution array-CGH and, more recently, massively parallel sequencing is revealing a pattern of structural variation in the general population that, in numbers of nucleotides affected, rivals the ubiquitous SNPs. An ever increasing number of pathologies are now associated with copy-number variation on the basis of evidence whose rigour tends to vary among studies.

As might be expected, JMG has been receiving increasing numbers of submissions linking copy-number variations to phenotypes and we have been happy to publish those that meet our standards for proof of causality. In …

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  • Competing interests None.

  • Provenance and peer review Commissioned; internally peer reviewed.

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