| Single Nucleotide Variants |
Mean |
0.999 |
0.996 |
NA12878 with Genome in a Bottle truth set (high confidence regions) |
| Single Nucleotide Variants |
95% credible interval |
0.999-0.999 |
0.996-0.996 |
NA12878 with Genome in a Bottle truth set (high confidence regions) |
| Indels |
Mean |
0.936 |
0.949 |
NA12878 with Genome in a Bottle truth set (high confidence regions) |
| Indels |
95% credible interval |
0.935-0.936 |
0.948-0.950 |
NA12878 with Genome in a Bottle truth set (high confidence regions) |
| Copy Number Variants (>2Kb) |
Mean |
0.975 |
N/A |
Clinically significant CNVs detected by standard of care tests in accredited labratories |
| Copy Number Variants (>2Kb) |
95% credible interval |
0.956-0.991 |
N/A |
Clinically significant CNVs detected by standard of care tests in accredited laboratories |
| Short Tandem Repeat Expansions |
Mean |
0.959 |
0.986 |
STR expansion tests (positive and negative) at target loci performed in accredited laboratories |
| Short Tandem Repeat Expansions |
95% credible interval |
0.896-1 |
0.947-1 |
STR expansion tests (positive and negative) at target loci performed in accredited laboratories |