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Briefings in Bioinformatics Advance Access originally published online on December 14, 2007
Briefings in Bioinformatics 2008 9(1):1-13; doi:10.1093/bib/bbm058
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© The Author 2007. Published by Oxford University Press. For Permissions, please email: journals.permissions@oxfordjournals.org

Three lectures on case–control genetic association analysis

Wentian Li

Corresponding author. Wentian Li. The Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, North Shore LIJ Health System, Manhasset, NY 11030, USA. Tel: +1-516-562-1076; Fax: +1-516-562-1153; E-mail: wli{at}nslij-genetics.org

The purpose of this review is to focus on the three most important themes in genetic association studies using randomly selected patients (case, affected) and normal samples (control, unaffected), so that students and researchers alike who are new to this field may quickly grasp the key issues and command basic analysis methods. These three themes are: elementary categorical analysis; disease mutation as an unobserved entity; and the importance of homogeneity in genetic association analysis.

Keywords: genetic association, case-control, single-nucleotide-polymorphism (SNP), linkage disequilibrium, categorical data analysis, aggregation paradox

Submitted: June 5, 2007. Received (in revised form): November 1, 2007.


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