Virtual Geneticist
High-Throughput
Platform for Accurate
Rare Disease Diagnosis
Virtual Geneticist enables clinical laboratories, medical centers, and children’s hospitals to accelerate variant interpretation, improve diagnostic yield, and scale genomic testing and analysis workflows.
Based on Breakthrough Genomics’ proprietary genomics database, Virtual Geneticist Variant provides access to detailed full text analysis of over 15 million publications and 180 million classified variants - all with multi-factorial scoring, full user control, and optional phenotype entry.
Resolve Challenging Cases and Variants
The platform helps laboratories evaluate difficult variants, including missense, non-coding, CNVs, repeat expansions,
mitochondrial variants, structural variants, and variants in parts of the genome known to be difficult to probe.
Rare Disease
Interpretation for
High Throughput Labs
Comprehensive WGS Analysis for Challenging Genomic Regions
Streamlined Re-
Analysis of Previously
Negative Cases
360 Assessment of
Diagnostic Odyssey
Cases
When you want to optimize efficiency of WGS analysis for large volume projects
Proven Difference-Maker in Clinical Practice
Virtual Geneticist has been evaluated in real-world clinical settings and featured in multiple genomics research publications. Clinicians at BC Children's Hospital concluded that Virtual Geneticist improved diagnostic performance, enabled efficient re-analysis of unsolved cases, and provided a valuable secondary review pathway alongside traditional commercial laboratory workflows.
How it works
1
Upload
VCF Files
individually
or in batches
2
Import
Patient Clinical
Notes, HPO
terms, or PDFs
3
Confirm
Phenotypes
for Analysis
4
Review
Ranked
Variants
5
Explore
ACMG Evidence
Scoring and
Variant Details
What’s Included
Match Virtual Geneticists to Your Workflow
The platform’s top ranked variant ranking is backed by clear evidence presentations, comprehensive litera-ture reviews, and proprietary ACMG-based scoring models to maximize efficiency and give users confidence in every variant evaluated.
Match Virtual Geneticists to Your Workflow
Intuitive case setup and intelligent phenotype capture enables more accurate diagnoses while reducing the manual burden of data entry and the limitations of relying solely on HPO (human phenotype ontology) terms.
Match Virtual Geneticists to Your Workflow
Built on scalable and high-performance architecture, the platform can process dozens of rare disease cases simultaneously. In a study by British Columbia Children’s Hospital, clinicians processed 800 WES and WGS cases in under five hours.
Match Virtual Geneticists to Your Workflow
Provides updated ACMG classifications backed by comprehensive literature evidence that eliminates the need to comb through scientific papers and manually extract relevant information.
Real-World Impacts
Large-scale Study on Pediatric Rare Disease Diagnosis
+10%
Yield Improvement
Clinical Impact
- Solved cases previously missed by major U.S. CAP/CLIA labs
- Drastically reduced clinician review time
- Enabled precise diagnosis with phenotype expansion
Baylor Genetics' Head-to-Head
Benchmarking Study for WGS Analysis
Number of Disease-Causing Variants
Correctly Ranked in the Top Position
Scale Interpretation
with Confidence
Virtual Geneticist is purpose-built for genomics programs to remove the bottlenecks associated with variant interpretation including the manual review of variant literature, the resolution of rare and VUS variants, and the challenges of variant prioritization
Customization
Available
Virtual Geneticist can be customized for maximum automation to further streamline workflow and reduce the risk of manual errors.
Scientific Publications
Introducing the Virtual Geneticist Modules
VG Variant
A scalable variant annotation and interpretation engine designed to help contextualize and resolve difficult and rare variants.
- Comprehensive literature-backed evidence
- ACMG Classification System with multi-factorial scoring, full user control, and optional phenotype entry
- API-ready architecture for seamless workflow integration
Virtual Geneticist
A genomic interpretation platform designed for rare disease diagnosis in high-throughput clinical labs, hospitals, and undiagnosed disease programs.
- Advanced variant prioritization and phenotype-driven analysis
- Automated natural language processing of clinical notes and patient phenotypes
- Parallel sample processing for scalable case analysis
Virtual Geneticist Plus
End-to-end solution for customized NGS analysis and reporting for use in clinical labs, newborn screening programs, and a variety of WGS applications.
- AI-Powered Filters for Fully-Customized Analysis
- Comprehensive Interpretation of Complex Variants Types
- Integrated Pipeline for Secondary Analysis
AI Genetics Research Agent
A genomics-focused research and translational medicine assistant for biopharma, clinical genomics, and specialty interpretation teams.
- Customizable interactive assistant for genomics-specific questions
- Literature-cited answers with clear supporting rationale
Explore the full potential of Virtual Geneticist®
Contact Us Today
