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

Authors :
Joshi PK
Prendergast J
Fraser RM
Huffman JE
Vitart V
Hayward C
McQuillan R
Glodzik D
Polašek O
Hastie ND
Rudan I
Campbell H
Wright AF
Haley CS
Wilson JF
Navarro P
Source :
PloS one [PLoS One] 2013 Jul 16; Vol. 8 (7), pp. e68604. Date of Electronic Publication: 2013 Jul 16 (Print Publication: 2013).
Publication Year :
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%.

Details

Language :
English
ISSN :
1932-6203
Volume :
8
Issue :
7
Database :
MEDLINE
Journal :
PloS one
Publication Type :
Academic Journal
Accession number :
23874685
Full Text :
https://doi.org/10.1371/journal.pone.0068604