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Although recent genome-wide studies have provided valuable insights into the genetic basis of human disease, they have explained relatively little of the heritability of most complex traits, and the variants identified through these studies have small effect sizes. This has led to the important and hotly debated issue of where the 'missing heritability' of complex diseases might be found. Here, seven leading geneticists offer their opinion about where this heritability is likely to lie, what this could tell us about the underlying genetic architecture of common diseases and how this could inform research strategies for uncovering genetic risk factors.

Original publication

DOI

10.1038/nrg2809

Type

Journal article

Journal

Nat Rev Genet

Publication Date

06/2010

Volume

11

Pages

446 - 450

Keywords

Disease, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Inheritance Patterns, Phenotype, Polymorphism, Genetic, Quantitative Trait, Heritable, Research Design