Breakthrough Genomics Unveils AI Tools and Largest Literature Database at ASHG 2025

Breakthrough Genomics showcased its largest interpreted literature database and unveiled new AI-driven capabilities at the American Society of Human Genetics (ASHG) 2025 Annual Meeting in Boston, announced in a press release.

The company highlighted updates to its Virtual Geneticist platform, which uses large language models to automate literature curation, ACMG classification, and clinical report generation. CEO Dr. Laura Li presented the system's ability to deliver up-to-date genetic evidence and reduce manual review time from hours to minutes while maintaining expert oversight.

Breakthrough Genomics also introduced Professor V, a chatbot designed for geneticists and researchers to explore biomedical literature and summarize evidence without hallucination. The company stated that its AI models enable higher-throughput rare disease diagnosis by improving variant prioritization and accelerating clinical reporting for whole exome and genome sequencing tests.