Designing a Genome-Wide Association Study: Main Steps and Critical Decisions

Methods Mol Biol. 2022:2481:3-12. doi: 10.1007/978-1-0716-2237-7_1.

Abstract

In this introductory chapter, we seek to provide the reader with a high-level overview of what goes into designing a genome-wide association study (GWAS) in the context of crop plants. After introducing some general concepts regarding GWAS, we divide the contents of this overview into four main sections that reflect the key components of a GWAS: assembly and phenotyping of an association panel, genotyping, association analysis and candidate gene identification. These sections largely reflect the structure of the chapters which follow later in the book, and which provide detailed discussions of these various steps. In each section, in addition to providing external references from the literature, we also often refer the reader to the appropriate chapters in this book in which they can further explore a topic. We close by summarizing some of the key questions that a prospective user of GWAS should answer prior to undertaking this type of experiment.

Keywords: Association panel; Candidate genes; GWAS; Genome-wide association studies; Genotyping; Statistical models.

Publication types

  • Review

MeSH terms

  • Genome-Wide Association Study*
  • Prospective Studies