Local exome sequences facilitate imputation of less common variants and increase power of genome wide association studies.
Where this comes from
- Record sourced from PubMed, PMID 23874685.
- Also identified by DOI 10.1371/journal.pone.0068604 and PMC identifier 3712964.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
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%.
Medical subject headings
- Exome
- Genome-Wide Association Study