A long and winding road for genomic disorders

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In a recent article published in Genome Medicine, Section Editor James R Lupski reports on the progress in our understanding of genomic disorders over the past 10 years.

The article ‘Genomic disorders ten years on’ chronicles the discovery of structural variation in the human genome and the great progress that the last decade has seen in terms of our understanding of such structural variation and its role in genomic disorders.

Author Dr Lupski, who is based at the Baylor College of Medicine, discusses how the field has overcome many challenges on both a technological and a conceptual level, and highlights how the advances in our understanding of the factors underlying such structural changes are paralleled only by the improvements in the technology used to identify, or rather discover, structural modification.

The journey in genomic disorder research is only just beginning though, as investigators are now able to use identified mechanisms, including those of rearrangement or break-induced replication, to further elucidate the effects of genomic rearrangements and structural variation in a clinical context. Overall, Dr Lupski stresses the importance of appreciating the role of copy number variation in the human genome, and comments on directions for future research.

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Jasmine Farsarakis
Commissioning and Development Editor, Genome Medicine