Article
Searching for missing heritability: designing rare variant association studies.
Proceedings of the National Academy of Sciences of the United States of America - 28 Jan 2014
Zuk Or, Schaffner Stephen F, Samocha Kaitlin, Do Ron, Hechter Eliana, Kathiresan Sekar, Daly Mark J, Neale Benjamin M, Sunyaev Shamil R, Lander Eric S
Abstract excerpt
Genetic studies have revealed thousands of loci predisposing to hundreds of human diseases and traits, revealing important biological pathways and defining novel therapeutic hypotheses. However, the genes discovered to date typically explain less than half of the apparent heritability. Because efforts have largely focused on common genetic variants, one hypothesis is that much of the missing heritability is due...
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