Gene size matters

PLoS One. 2012;7(11):e49093. doi: 10.1371/journal.pone.0049093. Epub 2012 Nov 9.

Abstract

In this work we show that in genome-wide association studies (GWAS) there is a strong bias favoring of genes covered by larger numbers of SNPs. Thus, we state here that there is a need for correction for such bias when performing downstream gene-level analysis, e.g. pathway analysis and gene-set analysis. We investigate several methods of obtaining gene level statistical significance in GWAS, and compare their effectiveness in correcting such bias. We also propose a simple algorithm based on first order statistic that corrects such bias.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Pairing / genetics*
  • Bias
  • Computer Simulation
  • Genes / genetics*
  • Genetic Markers
  • Genome-Wide Association Study
  • Humans
  • Linear Models
  • Polymorphism, Single Nucleotide / genetics

Substances

  • Genetic Markers