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Chunk #21 — The Phenotype

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Genome-wide association studies: a primer.
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or alter brain structure or function? This is also know as “reverse phenotyping” or “phenotype refinement”. Another analytic possibility, which will be particularly valuable if there is a high degree of polygenicity (i.e., hundreds or thousands of susceptibility alleles of small effect), will be to consider a large set of polymorphisms and use aggregate measures of their overall contribution to phenotypic susceptibility to seek to define “signatures” of genetic variants, the patterns of which could be compared across phenotypes.