Introductory Methods for eQTL Analyses

Methods Mol Biol. 2020:2082:3-14. doi: 10.1007/978-1-0716-0026-9_1.

Abstract

Expression quantitative trait locus (eQTL) analysis has proven to be a powerful method to describe how variation in phenotypes may be attributed to a given genotype. While the field of bioinformatics and genomics has experienced exponential growth with modern technological advances, an unintended consequence arises as a lack of a gold standard for many applications and methods, which may be compounded with ever-improving computational capabilities. Researchers working on eQTL analysis have at their disposal a multitude of bioinformatics software, each with different assumptions and algorithms, which may produce confusion as to their respective applicability. In this chapter, we will introduce eQTLs, survey commonly used software to conduct a mapping study, as well as provide data correction methods to avoid the pitfalls of such analyses.

Keywords: Bioinformatics software; Linkage and association mapping; eQTL analysis.

MeSH terms

  • Chromosome Mapping
  • Computational Biology / methods*
  • Confounding Factors, Epidemiologic
  • Gene Expression Profiling / methods*
  • Gene Expression*
  • Genetic Linkage
  • Genetic Variation
  • Genome-Wide Association Study
  • Genomics / methods
  • Quantitative Trait Loci*
  • Software*