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. 2017 Sep 29;13(9):e1007021. doi: 10.1371/journal.pgen.1007021

Table 3. Comparison of kinship estimation with and without off-target data in WES of 762 Chinese and Malays.

Dataset Method Unrelated (289,205 pairs) 3rd degree (148 pairs) 2nd degree (147pairs) PO/FS (437 pairs) Self-kinship (762 individuals)
RMSE BIAS RMSE BIAS RMSE BIAS RMSE BIAS RMSE BIAS
Target SEEKIN 0.006 -0.001 0.007 -0.001 0.008 -0.003 0.010 -0.004 0.018 -0.005
PC-Relate 0.005 0.000 0.007 -0.001 0.008 -0.004 0.012 -0.008 0.022 -0.017
Target + off-target SEEKIN 0.003 -0.001 0.003 0.001 0.004 0.001 0.007 0.003 0.017 0.002
PC-Relate 0.002 0.000 0.004 -0.004 0.009 -0.009 0.019 -0.019 0.026 -0.021

Evaluation was based on SNPs overlapped with the SGVP dataset in the BEAGLE+1KG3 call set of 762 individuals for both SEEKIN and PC-Relate. 40,824 SNPs within target regions and 1,054,229 SNPs across target and off-target regions were included in the analyses. RMSE is the root mean squared error and BIAS is defined as the mean difference to the array-based estimates from PC-Relate for each type of relatedness. Negative values of BIAS suggest underestimation for results based on sparse sequencing data and vice versa.