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Table 4 Relative increase in mean estimated r 2 by using combination of reference panel and combined approach (MAFs 0.5–1 %)

From: A new strategy for enhancing imputation quality of rare variants from next-generation sequencing data via combining SNP and exome chip data

  R300-C R500-C R700-C R848-C
R300-G 10.88 % 19.95 % 25.30 % 27.49 %
R500-G 1.47 % 9.77 % 14.67 % 16.67 %
R700-G −3.27 % 4.64 % 9.31 % 11.21 %
R848-G −5.25 % 2.50 % 7.07 % 8.94 %
  1. The names of panels were abbreviated as follows: R (reference panel), G (the genotype panel of SNP chip only), and C (the genotype panel of combined data). R300, R500, R700, and R848 indicates sample sizes of 300, 500, 700, and 848 for reference panel, respectively. R(sample size) -G represents combination of R(sample size) reference panel and G genotype panel. R(sample size)-C represents the combination of R(sample size) reference panel and C genotype panel