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Chunk #117 — 5. Implications for understanding gene-brain-behavior relationships in health and disease — 5.1. Intermediate phenotypes, or “endophenotypes”

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Genetic psychophysiology: advances, problems, and future directions.
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GWAS and growing number of genetic variants contributing to behavioral variation, there is an increasing need in the investigation of the pathways mediating the effects of these variants on behavior. In fact, functional significance of many of genetic loci being identified by GWAS is not readily clear. Therefore, De Geus (2010) argued that EEG endophenotypes can serve as an important tool for the elucidation of the functional meaning of candidate genetic variants that derive from association studies by helping us to understand where in the brain, at which stage and during what type of information processing these genetic variants have a role (de Geus, 2010).