Despite the identification of hundreds of genetic variants linked to human diseases, most variants explain a small proportion of disease risk. A review article in Nature asks what strategies should be explored to illuminate the genetics of complex diseases, and examines potential sources of missing heritability.
Heritability analyses attempt to estimate relative contributions of differences in genetic and non-genetic factors to the total phenotypic variance in a population. Genome-wide association studies (GWAS) have identified hundreds of genetic variants associated with complex human diseases and traits, and have provided valuable insights into their genetic architecture.
Teri A Manolio and colleagues, who met in February this year at a special National Human Genome Research Institute (NHGRI) workshop on missing heritability, propose research strategies, including and extending beyond current genome-wide association approaches to identify genetic variance involved in disease risk and prognosis. They argue that "although the value of genetic variants in disease prediction and the steps needed to realise this are widely debated [...] the search for missing heritability provides a potentially valuable path towards further discoveries
Teri A Manolio (National Human Genome Research Institute, Bethesda, MD, USA)
(C) Nature press release.
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