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Variant concordance between the Geno4ME LDP and WES-ORM in the WES Comparison cohort.
| Cohort | WES comparison |
| N samples | 25 |
| Experimental Method | Geno4ME LDP |
| Reference Method | WES |
| Positive genes confirmed by Reference Method | 77/78 |
| Negative genes confirmed by Reference Method | 874/874 |
| Effect size | Percent (95% CI) |
|---|---|
| Sensitivity | 98.7% (93%–100%) |
| Specificity | 100% (99.6%–100%) |
| Positive Predictive Value | 100% (95.3%–100%) |
| Negative Predictive Value | 99.9% (99.2%–100%) |
