@inbook{064233e4e86e4505a0b8c570c2a9c4f3,
title = "Definition of Phenotype",
abstract = "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.",
author = "Wojczynski, {Mary K.} and Tiwari, {Hemant K.}",
note = "Funding Information: H.K.T. is supported in part by NIH grants: R21LM008791, R01DK52431, P20RR01643, and R01HL055673. M.K.W. is supported by UAB Statistical Genetics Post‐Doctoral Training Program T32HL072757. We would like to thank Amit Patki for performing simulations for power analysis in Section III.C . In addition, we would like to thank Drs. D. C. Rao (partly supported by GM 28719), Donna K. Arnett (partly supported by R01HL055673), and David B. Allison (partly supported by R01DK52431) for their useful suggestion and discussions.",
year = "2008",
doi = "10.1016/S0065-2660(07)00404-X",
language = "English",
isbn = "9780123738837",
series = "Advances in Genetics",
pages = "75--105",
editor = "D.C. Rao and Charles Gu",
booktitle = "Genetic Dissection of Complex Traits",
}