Article
Performance of genotype imputation for rare variants identified in exons and flanking regions of genes.
PloS one - 1 Jan 2011
Li Li, Li Yun, Browning Sharon R, Browning Brian L, Slater Andrew J, Kong Xiangyang, Aponte Jennifer L, Mooser Vincent E, Chissoe Stephanie L, Whittaker John C, Nelson Matthew R, Ehm Margaret Gelder
Abstract excerpt
Genotype imputation has the potential to assess human genetic variation at a lower cost than assaying the variants using laboratory techniques. The performance of imputation for rare variants has not been comprehensively studied. We utilized 8865 human samples with high depth resequencing data for the exons and flanking regions of 202 genes and Genome-Wide Association Study (GWAS) data to characterize the...
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