• Immunology (including allergy)
• other endocrinology
• drugs: endocrine system
• molecular genetics
• metabolic disorders
• nutrition and metabolism
• pituitary disorders
• thyroid disease
• diabetes
• adrenal disorders
• academic medicine
• genetics

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 …