Article Text
Statistics from Altmetric.com
- 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 …
Footnotes
Competing interests None.
Provenance and peer review Commissioned; internally peer reviewed.
Linked Articles
- Special feature on copy-number variation
- Special feature on copy-number variation
- Special feature on copy-number variation
- Special feature on copy-number variation
- Special feature on copy-number variation
- Special feature on copy-number variation