期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 25, 期 7, 页码 869-876出版社
SPRINGERNATURE
DOI: 10.1038/ejhg.2017.51
关键词
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资金
- European Union H grants [692145, 676550, 654248]
- Estonian Research Council grants [IUT20-60, IUT24-6, SP1GV15007T]
- European Union through the European Regional Development Fund [2014-2020.4.01.15-0012 GENTRANSMED]
- Nordic Information for Action eScience Center (NIASC)
- NordForsk [62721]
- Wellcome Trust [WT098017]
Genetic imputation is a cost-efficient way to improve the power and resolution of genome-wide association (GWA) studies. Current publicly accessible imputation reference panels accurately predict genotypes for common variants with minor allele frequency (MAF) >= 5% and low-frequency variants (0.5 <= MAF < 5%) across diverse populations, but the imputation of rare variation (MAF <0.5%) is still rather limited. In the current study, we evaluate imputation accuracy achieved with reference panels from diverse populations with a population-specific high-coverage (30 x) whole-genome sequencing (WGS) based reference panel, comprising of 2244 Estonian individuals (0.25% of adult Estonians). Although the Estonian-specific panel contains fewer haplotypes and variants, the imputation confidence and accuracy of imputed low-frequency and rare variants was significantly higher. The results indicate the utility of population-specific reference panels for human genetic studies.
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