Local exome sequences facilitate imputation of less common variants and increase power of genome wide association studies

PLoS One. 2013 Jul 16;8(7):e68604. doi: 10.1371/journal.pone.0068604. Print 2013.

Abstract

The analysis of less common variants in genome-wide association studies promises to elucidate complex trait genetics but is hampered by low power to reliably detect association. We show that addition of population-specific exome sequence data to global reference data allows more accurate imputation, particularly of less common SNPs (minor allele frequency 1-10%) in two very different European populations. The imputation improvement corresponds to an increase in effective sample size of 28-38%, for SNPs with a minor allele frequency in the range 1-3%.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Exome / genetics*
  • Gene Frequency / genetics
  • Genome, Human / genetics
  • Genome-Wide Association Study / methods*
  • Genotype
  • Humans
  • Polymorphism, Single Nucleotide / genetics
  • White People