Much recent discussion addresses the question of 'missing heritability' in genome-wide association studies (GWAS). The problem can be illustrated using the example of human height. Classical pedigree studies show a high heritability of human height, in the order of 80%. This is part of our everyday experience: tall parents tend to have tall children. GWAS has identified more than 40 loci associated with height, but these variants together explain only a small part of phenotypic variation.1 A number of hypotheses have been advanced to identify the source of the missing heritability, including large effects of rare variants and effects of copy-number variation.
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