Genome-Wide Association Studies

Jacob L. McCauley, Yogasudha Veturi, Shefali Setia Verma, Marylyn D. Ritchie

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations


Genome-wide genotyping and analysis approaches offer the opportunity to examine patterns of variation across a large number of genomic positions for association with occurrence of disease or the distribution of traits of interest. Genome-wide association studies (GWAS) efforts require rigorous planning and careful study design at their outset. The primary design elements for consideration include genotyping technology or platform, data set sample design (family-based, case-control, cohort), and statistical analysis strategy. This chapter discusses each of these design elements in more detail. The statistical analyses used for GWAS in case-control or cohort samples have become mostly standardized in recent years. However, alternative statistical analysis approaches have begun to emerge as well. These are described in more detail. In addition to the standard GWAS approaches described in this chapter, the single nucleotide polymorphism (SNP) data generated by a genome-wide SNP array can be used for many other different types of analyses.

Original languageEnglish (US)
Title of host publicationGenetic Analysis of Complex Diseases
Subtitle of host publicationThird Edition
Number of pages23
ISBN (Electronic)9781119104100
ISBN (Print)9781118123911
StatePublished - Jan 1 2018

All Science Journal Classification (ASJC) codes

  • General Biochemistry, Genetics and Molecular Biology


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