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 300-patient cohort representing diverse clinical conditions and ethnic backgrounds, with 320 sites evaluated across true positive and true negative cases. The pipeline detected 224 of 226 true positive variants and correctly classified all 94 true negative sites, resulting in 99.1% sensitivity and 100% specificity. The cohort included neurological, ophthalmic, immunological, dermatological, skeletal, and congenital disorders.

300

Patients

320

Evaluated sites

99.1%

Sensitivity

100%

Specificity

224/226

True positives

0

False positives

Somatic validation in lung cancer

In a somatic cohort of 115 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.

115

Patients

119,022

Variants evaluated

118,546

True positives

99.6%

Sensitivity

Phenotype-to-genotype ranking

This evaluation included 100 individuals, including 87 affected and 13 unaffected. Vgen23 achieved 97.3% sensitivity and 100% specificity, with affected variants ranked in the top 1 to 5. Healthy controls were correctly detected as healthy by the pipeline.

100

Individuals

87

Affected cases

97.3%

Sensitivity

100%

Specificity

Genotype-to-phenotype ranking

Across 89 individuals and 102 catalogued variants, Vgen23 captured 93% of variants within the top 1 to 5 ranks, 98% within the top 1 to 10, and 100% within the top 1 to 20.

89

Individuals

102

Catalogued variants

93%

Top 1-5

98%

Top 1-10

100%

Top 1-20

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.