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Virtual Geneticist® Delivers High Throughput
Clinical Interpretation



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 disease diagnosis and genetic risk assessment, VG leverages advanced AI models to rapidly and accurately prioritize potential disease-causing variants. The platform features one-of-a-kind tools that are unique in the field including an automated review of variant literature that covers over 11 million variant-paper pairs and a fully-automated ACMG Classification System with over 180 million variants already classified.

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

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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. In addition, the platform’s powerful ranking engine enables users to better assess negative cases with more confidence and efficiency.

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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.

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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.

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Easy-To-Customize Reports

VG offers an end-to-end experience that 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.

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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 Boosts
Diagnostic Yield for Rare Disease Cases Using Virtual Geneticist

In a large retrospective study conduced in 2023, clinicians at BC Children’s Hospital re-analyzed hundreds of previously undiagnosed WGS and WES rare disease cases .

The study found that Virtual Geneticist was able to find an additional 10% of new diagnoses in cases previously reported with no findings by commercial labs. The platform was also able to successfully rank the correct causal variant in a Top 10 List 99% of the time – saving clinicians hours of unnecessary interpretation time on each case.

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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