“Exploring the unknown: assumptions about allelic architecture and strategies for susceptibility variant discovery”, a Minireview published this week in Genome Medicine, highlights the significant progress in identifying the genomic mechanisms behind disease predisposition.

In his article, Prof Mark I McCarthy explains that, although the discovery of specific genes associated with many common diseases is interesting, there are still many unanswered questions regarding the best way to identify predisposition to disease.

Genome-wide association studies help to identify a small proportion of common variants associated with a specific disease. Prof McCarthy highlights the importance of understanding the effect of allelic architecture within the identified genes, and discusses how future research prospects of combining data from common-variant associations with structural genetic variance might be more effective in shedding light on the mechanisms of disease susceptibility.

The key to future research on disease susceptibility, says Prof McCarthy, involves ‘open minds, a healthy disdain for orthodoxy, and careful exploration of the technological and methodological options’.

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Jasmine Farsarakis, Commissioning/Development Editor, Genome Medicine