Gene set analysis: A step-by-step guide

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

To maximize the potential of genome-wide association studies, many researchers are performing secondary analyses to identify sets of genes jointly associated with the trait of interest. Although methods for gene-set analyses (GSA), also called pathway analyses, have been around for more than a decade, the field is still evolving. There are numerous algorithms available for testing the cumulative effect of multiple SNPs, yet no real consensus in the field about the best way to perform a GSA. This paper provides an overview of the factors that can affect the results of a GSA, the lessons learned from past studies, and suggestions for how to make analysis choices that are most appropriate for different types of data.

Original languageEnglish (US)
Pages (from-to)517-527
Number of pages11
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Volume168
Issue number7
DOIs
StatePublished - Oct 1 2015

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Genes
Genome-Wide Association Study
Single Nucleotide Polymorphism
Research Personnel

Keywords

  • Complex traits
  • Gene set analysis
  • Genome-wide association studies
  • Polygenic effects

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience

Cite this

Gene set analysis : A step-by-step guide. / Mooney, Michael; Wilmot, Beth.

In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 168, No. 7, 01.10.2015, p. 517-527.

Research output: Contribution to journalArticle

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