Abstract
While genome wide association studies have led to the identification of robust associations for many complex disease phenotypes, they are typically not able to explain the amount of phenotypic variability that has been attributed to genetic factors by heritability studies such as those discussed in Chapter 4. For example for the phenotype height, heritability studies suggest that about 70% of the phenotypic variability is attributable to genetic factors. However, so far, GWAS for height have identified variants that explain a substantially smaller proportion of the genetic variance of this highly heritable trait (Weedon et al. (2008); Yang et al. (2010)). There are numerous reasons for this ‘missing heritability’, perhaps the most obvious being that the SNPs analyzed are likely only proxies for the real DSLs, and the fact that low frequency SNPs are difficult to detect.
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Laird, N.M., Lange, C. (2011). Looking Toward the Future. In: The Fundamentals of Modern Statistical Genetics. Statistics for Biology and Health. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-7338-2_12
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DOI: https://doi.org/10.1007/978-1-4419-7338-2_12
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