title: Local exome sequences facilitate imputation of less common variants and increase power of genome wide association studies.
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%.
authors.affiliation: Centre for Population Health Sciences, University of Edinburgh, Edinburgh, Scotland, United Kingdom.
authors.forename: Peter K
authors.initials: PK
authors.lastname: Joshi
authors.forename: James
authors.initials: J
authors.lastname: Prendergast
authors.forename: Ross M
authors.initials: RM
authors.lastname: Fraser
authors.forename: Jennifer E
authors.initials: JE
authors.lastname: Huffman
authors.forename: Veronique
authors.initials: V
authors.lastname: Vitart
authors.forename: Caroline
authors.initials: C
authors.lastname: Hayward
authors.forename: Ruth
authors.initials: R
authors.lastname: McQuillan
authors.forename: Dominik
authors.initials: D
authors.lastname: Glodzik
authors.forename: Ozren
authors.initials: O
authors.lastname: Polašek
authors.forename: Nicholas D
authors.initials: ND
authors.lastname: Hastie
authors.forename: Igor
authors.initials: I
authors.lastname: Rudan
authors.forename: Harry
authors.initials: H
authors.lastname: Campbell
authors.forename: Alan F
authors.initials: AF
authors.lastname: Wright
authors.forename: Chris S
authors.initials: CS
authors.lastname: Haley
authors.forename: James F
authors.initials: JF
authors.lastname: Wilson
authors.forename: Pau
authors.initials: P
authors.lastname: Navarro
mesh_terms: D059472:Exome / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D015894:Genome, Human / Q000235:genetics; D055106:Genome-Wide Association Study / Q000379:methods*; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D044465:White People