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- Title
Local Exome Sequences Facilitate Imputation of Less Common Variants and Increase Power of Genome Wide Association Studies.
- Authors
Joshi, Peter K.; Prendergast, James; Fraser, Ross M.; Huffman, Jennifer E.; Vitart, Veronique; Hayward, Caroline; McQuillan, Ruth; Glodzik, Dominik; Polašek, Ozren; Hastie, Nicholas D.; Rudan, Igor; Campbell, Harry; Wright, Alan F.; Haley, Chris S.; Wilson, James F.; Navarro, Pau
- 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%.
- Subjects
COMPUTATIONAL biology; POPULATION genetics; NUCLEOTIDE sequence; GENE frequency; SINGLE nucleotide polymorphisms; DATA analysis
- Publication
PLoS ONE, 2013, Vol 8, Issue 7, p1
- ISSN
1932-6203
- Publication type
Article
- DOI
10.1371/journal.pone.0068604