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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%.

SUBMITTER: Joshi PK 

PROVIDER: S-EPMC3712964 | biostudies-literature |

REPOSITORIES: biostudies-literature

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