6 Definition of the phenotype

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

58 Scopus citations

Abstract

Definition of the phenotype is a key issue in designing any genetic study whose goal is to detect disease genes. This chapter describes strategies to increase the power to detect susceptibility loci for complex diseases. A narrowly defined disease phenotype can offer advantages over broad definitions. Studies of clinical disease can also benefit from judicious selection of endophenotypes and related quantitative traits for analysis. The effect of diagnostic and measurement error is also discussed; power is maximized when strategies to reduce error are incorporated into a study design.

Original languageEnglish
Title of host publicationAdvances in Genetics
PublisherAcademic Press Inc.
Pages69-76
Number of pages8
ISBN (Print)0120176424, 9780120176427
DOIs
StatePublished - 2001

Publication series

NameAdvances in Genetics
Volume42
ISSN (Print)0065-2660

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