Table 3. Genotype reproducibility rates(%)*.
Variant type | Sample ID | Unfiltered | Filtered |
---|---|---|---|
HaplotypeCaller/3.4
Bi-allelic SNP Multi-allelic SNP |
H119 H137 H151 H119 H137 H151 |
98.9 97.7 97.8 95.0 92.3 92.1 |
99.5 98.5 98.3 96.6 94.0 93.6 |
Bi-allelic indel
Multi-allelic indel |
H119
H137 H151 H119 H137 H151 |
98.1
96.3 96.0 91.9 88.0 87.9 |
98.6
96.8 96.4 93.2 89.3 89.1 |
Genomestrip/2.0
Deletion |
H119 H137 H151 |
99.7 100.0 100.0 |
95.6 100.0 100.0 |
Duplication | H119
H137 H151 |
99.7
99.9 99.6 |
100.0
100.0 100.0 |
*Presented values are the overall genotype concordance, as generated using GATK/3.4 Genotype Concordance function. Code, logs and output data are available at http://doi.org/10.5281/zenodo.160539.