| Single Nucleotide Variants |
Exact |
0.9971 |
0.9989 |
HG002 high confidence regions |
| Single Nucleotide Variants |
95% credible interval |
0.9971-0.9972 |
0.9989-0.9989 |
HG002 high confidence regions |
| Indels |
Exact |
0.9912 |
0.9956 |
HG002 high confidence regions |
| Indels |
95% credible interval |
0.9911-0.9914 |
0.9955-0.9957 |
HG002 high confidence regions |
| Copy Number Variants (>2Kb) |
Exact |
0.9795 |
N/A |
Clinically significant CNVs detected by standard of care tests in accredited labratories |
| Copy Number Variants (>2Kb) |
95% credible interval |
0.9609-0.9929 |
N/A |
Clinically significant CNVs detected by standard of care tests in accredited laboratories |
| Short Tandem Repeat Expansions |
Exact |
1 |
0.9333 |
STR expansion tests (positive and negative) at target loci performed in accredited laboratories |
| Short Tandem Repeat Expansions |
95% credible interval |
0.9343-1 |
0.8252-0.9943 |
STR expansion tests (positive and negative) at target loci performed in accredited laboratories |
| Single Nucleotide Variants and Indels impacting the mitochondrial genome |
Exact |
1 |
N/A |
Variants detected at ≥5% heteroplasmy in accredited laboratories |
| Single Nucleotide Variants and Indels impacting the mitochondrial genome |
95% credible interval |
0.9566-1 |
N/A |
Variants detected at ≥5% heteroplasmy in accredited laboratories |