Breakthrough Genomics Showcases Largest Interpreted Literature Database and Unveils New AI Capabilities at ASHG 2025

IRVINE, Calif., Oct. 21, 2025 /PRNewswire/ -- Breakthrough Genomics, a leader in AI-powered clinical genomics interpretation, today announced new research highlights and product updates presented at the American Society of Human Genetics (ASHG) Annual Meeting, held October 15–18 in Boston. The company showcased its largest interpreted literature database to date and shared results from its Virtual Geneticist® platform, which uses large language models (LLMs) for literature curation, automated ACMG classification, and clinical report generation.

Dr. Laura Li, CEO of Breakthrough Genomics, delivered a presentation during the ASHG Lightning Talk Session, "Scaling Genomic Medicine: From Patient-Centered Tools to Population and Therapeutic Insights." Dr. Li detailed how Virtual Geneticist® LLM models can help geneticists and researchers to get trustworthy, up-to-date literature evidence at their fingertips. "Virtual Geneticist® LLM interprets the literature and automates ACMG/ClinGen based genetic variant classification so clinical labs can move from hours of manual review to minutes of confident decision-making - while preserving expert oversight."

Breakthrough Genomics is leading the way in AI for genomics

• Shortening the diagnostic interpretation process with AI-assisted evidence synthesis:
  New analyses show how Virtual Geneticist® aggregates functional studies, segregation data, and case reports to streamline application of ACMG/ClinGen v3 and v4 rules - reducing manual review time while preserving expert judgment.
• High-throughput rare-disease diagnosis using validated AI models:
  Virtual Geneticist® AI models improve de novo detection and phenotype-driven variant prioritization, enabling higher-throughput diagnostic findings for Whole Exome and Whole Genome Sequencing tests, cutting the clinical reporting time from hours to minutes.
• Launch of Professor V:
  A genetics research chatbot specifically designed for geneticists and scientists to explore biomedical literature, evaluate hypotheses, and summarize evidence with speed and rigor without any hallucination.

About Breakthrough Genomics
Breakthrough Genomics delivers Virtual Geneticist®, an AI-powered clinical interpretation platform that transforms complex genomic data into clear, evidence-backed insights. Built for hospital and reference-lab environments, Virtual Geneticist® supports end-to-end workflows – from genomic data ingestion and QC to ACMG classification and report drafting - and can be deployed on-premises or in a cloud. Our mission is to help labs and geneticists move from hours of manual review to minutes of confident decision-making, improving outcomes for patients and families worldwide. Learn more at https://btgenomics.com/our-technology/ and connect with us on https://www.linkedin.com/company/btgenomics/.

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