Definition of Phenotype

Mary K. Wojczynski, Hemant K. Tiwari

Research output: Chapter in Book/Report/Conference proceedingChapter

33 Scopus citations


Definition 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.

Original languageEnglish
Title of host publicationGenetic Dissection of Complex Traits
EditorsD.C. Rao, Charles Gu
Number of pages31
StatePublished - Mar 20 2008
Externally publishedYes

Publication series

NameAdvances in Genetics
ISSN (Print)0065-2660

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    Wojczynski, M. K., & Tiwari, H. K. (2008). Definition of Phenotype. In D. C. Rao, & C. Gu (Eds.), Genetic Dissection of Complex Traits (pp. 75-105). (Advances in Genetics; Vol. 60).