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Exploring Personal Genomics$
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Joel T. Dudley and Konrad J. Karczewski

Print publication date: 2013

Print ISBN-13: 9780199644483

Published to Oxford Scholarship Online: December 2013

DOI: 10.1093/acprof:oso/9780199644483.001.0001

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PRINTED FROM OXFORD SCHOLARSHIP ONLINE (oxford.universitypressscholarship.com). (c) Copyright Oxford University Press, 2021. All Rights Reserved. An individual user may print out a PDF of a single chapter of a monograph in OSO for personal use. date: 17 June 2021

Genetic trait associations

Genetic trait associations

(p.100) Chapter 6 Genetic trait associations
Exploring Personal Genomics

Joel T. Dudley

Konrad J. Karczewski

Oxford University Press

This chapter talks about the primary application of personal genomics: mainly to understand and evaluate the genetic components of personal traits, including one's risk to acquire certain various diseases. Genetic association studies are one such application. These studies aim to identify and uncover the relationship between genetics and personal traits. They are particularly important for studying so-called ‘complex’ human traits, such as cardiovascular function or autoimmune disease, which don't normally show clear Mendelian patterns of inheritance. As a result, these traits in one's genome most likely involve many genes interacting with either one another, or with various environmental factors in very complex ways. These traits are often referred to in the research literature as ‘polygenic’ or ‘multifactorial’ traits. The purpose of this chapter, then, is to give an overview of the design and conduct of genetic association studies, and how the use of genetic associations in personal genomics requires careful consideration and study.

Keywords:   application of personal genomics, personal genomics, genetic components, genetic association studies, human traits, Mendelian patterns of inheritance, polygenic, multifactorial, genetic associations

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