VG-Variant
Easy Access to Intelligent
Variant Classification
and Scoring
Scalable Variant Annotation and Interpretation Engine designed to help contextualize and resolve difficult and rare variants. The tool provides updated ACMG classifications, comprehensive literature backed evidence scoring, phenotype-driven analysis, and summaries of every variant paper.
An easy-to-access single variant entry or a seamless API that can fit into existing variant interpretation 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.
Primary Tool Interface
How it works
- Enter Variant ID - compatible with HGVS nomenclature or RSID and patient clinical info/phenotype (optional) or direct link out via API.
- Review Comprehensive Variant Information and Suggested ACMG Classification and Evidence Scoring.
- Scan Literature Overview and Structured Summaries of Individual Papers.
- Adjust specific evidence scores as needed after individual evaluation.
for single variant search
What’s Included
Comprehensive
Variant Dashboard
Consolidated Variant
Information Including:
- In Silico Prediction Scores
- Links to OMIM, ClinVar, and other public databases
- Compatibility with both HGVS nomenclature and RSIDs
ACMG Classification
and Evidence
Transparent Scoring for
Enhanced Variant Classification:
- Suggested ACMG Classification
- Clear Point Scoring and for each line of evidence
- All evidence backed by clear reasoning and citation- backed references
Variant Literature
Summaries
Fully-integrated literature
evaluation and review includes:
- Top-level Literature Overview and Classification
- Concise and structured summaries for every paper (up to 100) on every variant
- Each summary contains:
- Phenotypes and Functional Information
- Numbers of Patients and Allelic data
- Family and Segregation Studies
- Author’s Classification
Successful Resolution of VUS Variants
Virtual Geneticist Variant can help resolve VUS variants in minutes rather than hours. In a recent pilot study comparing the resolution of VUS variants returned by major U.S. clinical labs, VG Variant was able to resolve 67% more VUS variants than a competing variant look-up tool.
Use Cases
Rare Disease Diagnosis and Clinical Reporting
Precision Medicine Screening Tests
New Born Screening and Population- level initiatives
Genomic
Research
When you want to improve your interpretation capabilities without replacing existing platforms
Scalable and Easy-to-Access Variant Interpretation
A scalable variant annotation and interpretation engine built for clinical and research workflows, from single-variant review to enterprise-scale integration.
API-Ready Architecture for Seamless Workflow Integration
API (Application Programming Interface) Integration allows bio-information tools and services such as Virtual Geneticist to sync with existing systems and automate data sharing and content delivery
API documentation available upon request
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®
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