Breakthrough Genomics, a California-based leader in AI-driven rare disease diagnostics, announced today a groundbreaking achievement in genome interpretation. The company reports that it has successfully analyzed and extracted clinical insights from tens of millions of scientific publications on genetic disease.

Despite countless advances in understanding how a person’s genetic code influences their overall health and likelihood to develop disease, the diagnosis of rare disease, especially in children, is still considered one of the steepest challenges for diagnostic labs. Far too many cases go unsolved, leaving patients and their families without an answer to their loved one’s debilitating condition.

Leveraging their proprietary AI-driven genetic language model, Breakthrough Genomics has now completed the world’s first fully-interpreted variant literature database that helps solve undiagnosed cases while drastically reducing the time needed for a medical geneticist to review an individual’s whole genome.