Table 1

Accuracy of genotypes called by MethylGenotyper in the DFTJ dataset

Probe typeNumber of SNPsGenotype concordanceHeterozygote concordance
SNP probe53 (53)98.89%98.53%
Type I probe111 (109)98.26%96.93%
Type II probe4155 (4092)98.25%96.59%
 C-to-T3875 (3818)98.27%96.62%
 C-to-A193 (191)98.24%96.37%
 C-to-G87 (83)97.75%96.05%
Overall4319 (4254)98.26%96.64%
Probe typeNumber of SNPsGenotype concordanceHeterozygote concordance
SNP probe53 (53)98.89%98.53%
Type I probe111 (109)98.26%96.93%
Type II probe4155 (4092)98.25%96.59%
 C-to-T3875 (3818)98.27%96.62%
 C-to-A193 (191)98.24%96.37%
 C-to-G87 (83)97.75%96.05%
Overall4319 (4254)98.26%96.64%

Note: SNPs with MAF < 0.01, HWE P < 1 × 10−6, R2 < 0.75 or > 1.1, or missing rate > 0.1 were excluded. Concordance was evaluated by comparison to the array genotyping data of the same samples. Number of SNPs with array genotyping data were shown in the parentheses. SNP, single nucleotide polymorphism; DFTJ, Dongfeng–Tongji; MAF, minor allele frequency; HWE, Hardy–Weinberg equilibrium.

Table 1

Accuracy of genotypes called by MethylGenotyper in the DFTJ dataset

Probe typeNumber of SNPsGenotype concordanceHeterozygote concordance
SNP probe53 (53)98.89%98.53%
Type I probe111 (109)98.26%96.93%
Type II probe4155 (4092)98.25%96.59%
 C-to-T3875 (3818)98.27%96.62%
 C-to-A193 (191)98.24%96.37%
 C-to-G87 (83)97.75%96.05%
Overall4319 (4254)98.26%96.64%
Probe typeNumber of SNPsGenotype concordanceHeterozygote concordance
SNP probe53 (53)98.89%98.53%
Type I probe111 (109)98.26%96.93%
Type II probe4155 (4092)98.25%96.59%
 C-to-T3875 (3818)98.27%96.62%
 C-to-A193 (191)98.24%96.37%
 C-to-G87 (83)97.75%96.05%
Overall4319 (4254)98.26%96.64%

Note: SNPs with MAF < 0.01, HWE P < 1 × 10−6, R2 < 0.75 or > 1.1, or missing rate > 0.1 were excluded. Concordance was evaluated by comparison to the array genotyping data of the same samples. Number of SNPs with array genotyping data were shown in the parentheses. SNP, single nucleotide polymorphism; DFTJ, Dongfeng–Tongji; MAF, minor allele frequency; HWE, Hardy–Weinberg equilibrium.

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