Definition of Phenotype
2008; Elsevier BV; Linguagem: Inglês
10.1016/s0065-2660(07)00404-x
ISSN0065-2660
AutoresMary K. Wojczynski, Hemant K. Tiwari,
Tópico(s)Genetic Mapping and Diversity in Plants and Animals
ResumoDefinition of the phenotype is crucial in designing any genetic study, especially an association study, intended to detect the disease predisposing genes. In this chapter, we review the different types of phenotypes such as discrete or continuous and discuss the issues impacting on the phenotype definition related to study design, specifically, the impact of diagnostic error (misclassification) in case‐control studies and measurement error in continuous traits. We show that the power of a study depends heavily on the phenotype measured and that misclassification or measurement error can dramatically reduce the power. We also suggest some possible responses to these challenges.
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