Virtual Geneticist® Delivers High Throughput
Clinical Interpretations
Virtual Geneticist® (VG) is Breakthrough Genomics’ proprietary AI-powered clinical interpretation platform, purpose-built to accelerate and enhance the analysis of gene panels, whole-exome (WES), and whole-genome (WGS) sequencing data. Designed for both rare and common disease diagnosis, VG leverages advanced AI models to rapidly and accurately prioritize potential disease-causing variants. It delivers superior functions such as automated ACMG classifications and 11 million curated variant–literature interpretations, enabling confident, scalable interpretation at clinical speed.
The platform delivers ACMG-guided interpretations through structured, evidence-based summaries and has demonstrated improved diagnostic outcomes in previously unsolved clinical cases. Designed for speed, scalability, and ease of integration, Virtual Geneticist® fits seamlessly into standard laboratory workflows and supports all major sequencing technologies.
An All-in-One, Scalable Solution for Clinical Labs,
Healthcare Systems, and Children’s Hospitals
AI-Powered Variant Prioritization
VG offers a suite of AI models designed to maximize sensitivity and specificity in prioritizing diagnostic variants—ensuring that no true positives are missed. Additionally, it enables you to confidently conclude negative cases and efficiently move on to the next
Fully-automated ACMG Classification
By leveraging the unique ability to accurately interpret variant literature, VG accurately Calculates ACMG Classifications for over 180 Million Genetic Variants. Each classification also includes a comprehensive and adjustable strength-of-evidence analysis and all the literature evidence.
Tools for both Secondary and Tertiary Analysis
VG does not require any additional software and is capable of analyzing FastQ, BAM and VCF files, identifying a wide range of hard-to-detect variants, including SNPs, Indels, Copy Number Variations, Trinucleotide Repeats, and others. The platform can also analyze Transcriptome data and Long-Read Sequencing Data.
Easy-To-Customize Reports
VG offers an end-to-end experiencethat features an intuitive interface to create new cases, enter clinical notes, and automate report generation. Both of these modules are completely customizable with ready- to-use reports for a range of medical sub-specialties.
Additional Features
- Compatible with a wide range of sequencing platforms and technologies
- Scalable to allow for the high-efficiency processing of hundreds of samples simultaneously
- Customizable with optional API Integration for Literature Database and ACMG Classification
- Secure – HIPAA and GDPR Compliant with adherence to data security protocols and best practices
Virtual Geneticist Overview
Case Study: British Columbia Children’s Hospital Boosting
Diagnostic Yield with Virtual Geneticist®
Study Overview: Unlocking Answers in Previously Unsolved Cases
In a 2023 retrospective study2, clinicians at BC Children’s Hospital reanalyzed hundreds of unresolved pediatric rare disease cases.
Virtual Geneticist identified the correct diagnosis in 10% of previously “negative” cases—cases missed by traditional methods—and ranked the true causal variant in the Top 10 list 99% of the time, showcasing its superior reanalysis performance.
- Nearly 800 Total Rare Disease Cases (WES and WGS)
- Included both Diagnosed and Undiagnosed Patients
- Compared Performance of Different Platforms
Study Results: VG Solves Cases Missed by Other Platforms
Diagnostic Yield
+10%
Increase in Diagnostic Yield for Previously Negative Cases
Returned by U.S. Commercial Labs
Variant Prioritization
99%
of Disease Causing Variants
Successfully Ranked in in
a Top 10 List
High Throughput
10x
800 WES and WGS Cases Simultaneously Processed in
Less than 5 Hours
Additional Findings: VG Performs with Equally High Sensitivity in Singleton vs Trio Analysis
1 – A 2023 Study by clinicians at British Columbia Children’s Hospital that examined hundreds of rare disease cases found that by using Virtual Geneticist an additional 10% of false negative cases were correctly solved. The same study compared the performance of Virtual Geneticist with other platforms and found that Virtual Geneticist™ correctly presented the causal variant in a Top 10 List 99% of the time. Click here to see the results of the study
2 – Improving Transparency, Collaborative Variant Interpretation, and High-throughput Diagnostics: A Clinician’s Review of the VIRTUAL GENETICIST Platform. Study results and talk presented at the 2023 American Society of Human Genetics Conference by Dr. Adrienne Elbert, MD. British Columbia Children’s Hospital
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