期刊
PLOS ONE
卷 8, 期 7, 页码 -出版社
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pone.0068604
关键词
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资金
- Chief Scientist Office of the Scottish Government
- Medical Research Council
- European Union
- MS Society UK
- Volant Trust
- Royal Society
- Croatian Ministry of Science Education and Sport
- MRC [MC_U127592696, MC_PC_U127592696, MC_PC_U127561128] Funding Source: UKRI
- Chief Scientist Office [CZB/4/710] Funding Source: researchfish
- Medical Research Council [MC_U127592696, 1201677, MC_PC_U127592696, MC_PC_U127561128] Funding Source: researchfish
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%.
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