Accelerate Genetic Disease Diagnosis and Research
with Advanced Genomics AI Tools
Virtual Geneticist® empowers diagnostic laboratories and healthcare organizations to scale genomic testing, accelerate disease diagnosis, and drive innovation with cutting-edge AI-powered genomic interpretation tools.
Introducing the Virtual Geneticist Suite of Tools
Virtual Geneticist is a modular genomic interpretation platform designed to meet teams where they are, with flexible options ranging from API-based workflow integration to end-to-end solutions for variant interpretation, case analysis, reporting, and AI-assisted genomic research.
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
Trusted by Leading Healthcare Organizations:
Challenges We Resolve
Low Overall
Diagnostic Yields
Too many cases are returned to doctors and their patients with uncertain findings, VUS variants, and false "negative" findings where the correct variant for reporting is missed.
Pressure to Expand Test Volume and Complexity
Labs are frequently being asked to add new test types and increase test volumes without the sufficient resources required to improve or supplement existing pipelines.
Variant Interpretation is Time Intensive and Hard
to Scale
Geneticists and curation scientists consistently face an endless manual review of borderline and uncertain variants (VUS) which consumes valuable staff hours and slows turnaround times.
Certain Types of Variants Present Interpretation Challenges for Existing Pipelines
The accurate identification and interpretation of CNVs, Repeat Expansions, Mitochondrial Variants, Intronic Variants, variants with low penetrance, pseudogenes, and variants in high homology loci, often create an added interpretation burden that is beyond the technical capabilities of many existing systems.
Updated Classification Guidelines Require Comprehensive Literature Review
Staying up-to-date with evolving variant classification guidelines is difficult and is increasingly dependent on evaluating dozens of publications for a given variant.
Chronic Shortage of Qualified Geneticists, Curation Scientists, and Counselors
Both in the U.S. and around the world, individuals with the necessary training in medical genetics are in short supply which can limit test capacity and opportunities for in-depth analysis of difficult cases.
The Solution - What is Virtual Geneticist?
Virtual Geneticist® is an enterprise clinical genomics interpretation platform designed to support high-throughput genomic analysis. The platform addresses one of the central operational bottlenecks in genomic medicine: the time, complexity, and specialist labor required for expert variant interpretation, literature review, classification, and reporting.
Key Benefits
Variant Prioritization and Scoring
Virtual Geneticist includes a multi-factor prioritization framework that accurately ranks potential disease-causing variants and provides composite scores to support each ranking. Comprehensive Scoring Logic includes
Scoring Logic Includes:
- Detailed Variant Literature Evaluatio
- In Silico Prediction Scores
- Database Evidence from ClinVar, OMIM, and Others
- Inheritance Patterns and Zygosity
- Population Frequencies and Patient Counts
Interpreted Literature Database
Virtual Geneticist solves the challenge of manual review of rare and uncertain variants through a comprehensive full-text literature evidence layer that is integrated directly into the interpretation workflow. This proprietary database provides easy-to-access literature overviews and evidence scoring.
Literature Database Contains:
- Concise Literature Overeviews that highlight functional evidence, patient counts, segregation info, clinical context and more
- Evidence relevant to classification and case review
- Prioritized Publications and Literature Hyperlinks (up to 100) for every variant
Automated ACMG Classification Engine
Virtual Geneticist includes an up-to-date ACMG classification scoring system designed to help users standardize and accelerate classification while preserving reviewer oversight.
ACMG Scoring System Includes:
- Literature Backed Evidence
- In Silico Prediction Scores
- Population Frequencies
- Gene-Variant Relationships
- Clinical Phenotypes
Tools to Support the Interpretation of Difficult Classes of Variants
Virtual Geneticist provides specific tools and filters to detect and interpret a wide range of the most challenging classes of genetic variants.
What it evaluates
Interpretation for difficult genomic regions and variants include:
- CNV’s and Structural Variants
- Trinucleotide Repeats
- Variants with low penetrance
- Intronic variants
- Mitochondrial variants
- Complex Star Alleles
- Pseudogenes
Secondary Analysis, Tertiary Analysis, and Reporting
VG offers end-to-end capabilities with advanced layers for data ingestion, phenotype entry, variant calling, interpretation, and reporting. Also included are tools to conduct trio and family analysis and large cohort studies.
Data Type Compatibility:
- Whole Genome
- Whole Exome
- Specialty Gene Panels
- RNA
- Long-read Sequencing
Supporting our Customers
Clinical Labs
Healthcare Systems
Children's Hospitals
Research & Biopharma
Government Projects
Patient Advocacy
Legal / Judicial Services
Deployment Options
- Secure cloud-hosted SaaS
- Flexible API integration
- Private cloud
- Region-specific deployment for data sovereignty needs
- On-premise deployment for sensitive environments
Security and Governance
Support for regulated clinical environments including:
- HIPAA and GDPR-compliant data handling
- Role-based access control (RBAC)
- Version control with full audit trails
Comprehensive Security White Paper - available upon request
Scientific Publications
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