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Define Disease Phenotype

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The first step in any disease gene discovery process is to know what phenotype is being studied. This may sound obvious, but specifying the exact measures that will be used to reliably and validly determine the phenotype is often overlooked in the rush to move forward. There are three aspects that need to be considered: clinical definition, determining that a trait has a genetic component, and identification of datasets that can be studied.

Genetic Analysis of Complex Disease

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