OneGenome genomic AI system introduced to advance rare disease diagnosis

Researchers in China have introduced OneGenome, an open-source genomic AI system designed to assist clinicians with complex genomic sequencing interpretation and the diagnosis of rare diseases. Developed through a collaboration between BGI-Research and Zhejiang Lab, the platform utilizes a human-genome foundation model called Genos combined with large language model capabilities.

This technology connects DNA variants directly to clinical literature and phenotypic information, aiming to resolve bottlenecks in categorizing novel DNA variants that standard analytical methods often struggle to identify. OneGenome serves as a decision-support tool for precision medicine, intended to aid specialists rather than replace clinical judgment. In July 2026, the system received an Innovate for Impact Use Case Award from the International Telecommunication Union at the UN AI for Good Global Summit.