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. 2020 Dec 31;19:509–517. doi: 10.1016/j.csbj.2020.12.032

Table 2.

Comparison of noninvasive fetal variant calling pipelines in family G1 – SNPs.

Pipeline F1_Score Recall Precision TOTAL TP FN FP FP.gt FP.al
bwa-none-freebayes 0.991090 0.986208 0.996020 22,332 22,024 308 88 68 0
bwa-abra-freebayes 0.990910 0.986117 0.995749 22,330 22,020 310 94 75 0
bwa-gatk-freebayes 0.991157 0.986208 0.996155 22,332 22,024 308 85 67 0
bwa-none-gatk 0.988222 0.981314 0.995228 22,316 21,899 417 105 71 0
bwa-abra-gatk 0.988245 0.981447 0.995138 22,315 21,901 414 107 72 0
bwa-gatk-gatk 0.988063 0.981397 0.994820 22,308 21,893 415 114 72 0
bowtie-none-freebayes 0.943192 0.898413 0.992669 22,306 20,040 2266 148 105 0
bowtie-abra-freebayes 0.989173 0.985115 0.993265 22,305 21,973 332 149 106 0
bowtie-gatk-freebayes 0.942454 0.897206 0.992508 22,297 20,005 2292 151 101 0
bowtie-none-gatk 0.974657 0.956364 0.993663 22,298 21,325 973 136 88 0
bowtie-abra-gatk 0.974633 0.956319 0.993663 22,298 21,324 974 136 88 0
bowtie-gatk-gatk 0.974679 0.956407 0.993663 22,297 21,325 972 136 87 0