Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model.

摘要: Finding genes for complex diseases has been the goal of many genetic studies. Most these studies have successful by searching and mutations in rare familial cases, screening candidate performing genome wide association However, only a small fraction total risk can be explained identified associated loci. In this review we focus on Hirschsprung disease (HSCR) as an example disorder. We describe congenital malformation postulate that both common 'low penetrant' variants combination with or private 'high determine HSCR, likely, other diseases. also discuss how new technological advances used to gain further insights background Finally, outline few steps develop functional assays order involvement development.