Article
Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model.
Developmental biology - 1 Oct 2013
Alves Maria M, Sribudiani Yunia, Brouwer Rutger W W, Amiel Jeanne, Antiñolo Guillermo, Borrego Salud, Ceccherini Isabella, Chakravarti Aravinda, Fernández Raquel M, Garcia-Barcelo Maria-Mercè, Griseri Paola, Lyonnet Stanislas, Tam Paul K, van Ijcken Wilfred F J, Eggen Bart J L, te Meerman Gerard J, Hofstra Robert M W
Abstract excerpt
Finding genes for complex diseases has been the goal of many genetic studies. Most of these studies have been successful by searching for genes and mutations in rare familial cases, by screening candidate genes and by performing genome wide association studies. However, only a small fraction of the total genetic risk for these complex genetic diseases can be explained by the identified mutations and associated...
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