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. 2017 May 16;49:46. doi: 10.1186/s12711-017-0321-6

Table 7.

Imputation reliability (measured as r 2 and given in %) for the two scenariosa of imputation

Trusted set of variants Traditional variant filtering
N WGS-I1a WGS-I2a DbI2-I1 N WGS-I1a WGS-I2a DI2-I1b
Avg r 2 Med r 2 Avg r 2 Med r 2 Avg r 2 Med r 2 Avg r 2 Med r 2
Overall 5,149,267 90.47 93.63 90.65 93.81 0.18 13,129,937 88.66 93.57 89.07 93.87 0.41
NMA = 2c 79,755 56.74 67.47 59.98 86.76 3.24 680,303 63.04 80.94 67.95 96.96 4.91
NMA = 3c 78,933 69.10 71.02 70.78 75.35 1.68 510,080 77.28 92.25 79.00 95.49 1.72
0.01 < MAF ≤ 0.05 644,224 77.57 85.82 78.45 87.11 0.88 3,278,384 79.56 91.35 81.01 94.27 1.46
0.05 < MAF ≤ 0.10 673,955 89.15 91.65 89.21 91.81 0.06 2,047,206 89.91 92.82 90.07 93.15 0.16
0.10 < MAF 3,831,088 92.87 94.20 92.95 94.30 0.08 7,804,347 92.15 93.91 92.19 93.96 0.04
First Mb 48,089 85.40 90.90 87.56 92.84 2.15 134,266 83.17 90.10 85.19 92.27 2.01
Last Mb 53,502 87.94 91.55 88.45 92.05 0.51 155,246 85.85 91.26 86.53 91.88 0.68
Between first and last Mb 5,045,959 90.55 93.68 90.70 93.84 0.16 12,840,425 88.75 93.62 89.14 93.91 0.39

aWGS-I1: imputation from GEN-P1 to WGS-P1 (using only LD information); WGS-I2: imputation from GEN-P2 to WGS-P2 (using both LD and familial information)

bDI2-I1: difference of average r 2

cNMA: number of occurrences of the minor allele