Validation you can inspect

Vgen23 is validated across germline, somatic, and ranking workflows. Performance claims are specific, reviewable, and tied to real evaluation cohorts.

Validation First Approach

You can only use Vgen23 if you can verify what it detects, how it ranks, and how it supports review. Vgen23 was built by the scientific team at Vgenomics, and our validation focused on detection accuracy, ranking performance, specificity, and review-readiness across real-world clinical categories.

Whole-exome germline validation

Vgen23 was evaluated on a 100-patient cohort representing diverse clinical conditions and ethnic backgrounds, with 130 sites evaluated across true positive and true negative cases. The pipeline detected 112 of 113 true positive variants and correctly classified all 17 true negative sites, resulting in 99.1% sensitivity and 100% specificity. The cohort included neurological, ophthalmic, immunological, dermatological, skeletal, and congenital disorders.

100

Patients

130

Evaluated sites

99.1%

Sensitivity

100%

Specificity

112/113

True positives

0

False positives

Somatic validation in lung cancer

In a somatic cohort of 96 lung cancer patients, Vgen23 evaluated 119,022 somatic variants and correctly identified 118,546 true positive variants, with 476 false negatives, resulting in 99.6% sensitivity.

96

Patients

119,022

Variants evaluated

118,546

True positives

99.6%

Sensitivity

Phenotype-to-genotype ranking

This evaluation included 39 individuals, including 29 affected and 10 unaffected. Vgen23 achieved 93.1% sensitivity and 100% specificity, with affected variants ranked in the top 1 to 5. Healthy controls were correctly detected as healthy by the pipeline.

39

Individuals

29

Affected cases

93.1%

Sensitivity

100%

Specificity

Genotype-to-phenotype ranking

Across 40 individuals and 57 catalogued variants, Vgen23 captured most detected variants within the top 1 to 20 ranks, including 63% in the top 1 to 5.

40

Individuals

57

Catalogued variants

63%

Top 1-5

9%

Top 6-10

9%

Top 11-20

Validated beyond a single population

Validation cohorts included samples from Indian, Chinese, Korean, Shanghai, Brazilian, Han, and Russian backgrounds, supporting strong performance across multiple genetic backgrounds.

What this means!

+Strong detection accuracy
+High specificity where false positives matter
+Faster candidate variant review
+Population-aware interpretation
+Built for real clinical review workflows

Review the details or test it yourself

Read the supporting documentation in our Trust Center, or upload your own solved or unsolved case to evaluate Vgen23 in your workflow.