New Software Brings Genomics, AI, and Data Together

Generating genetic data has never been easier. But making sense of all that information is a massive headache for scientists.

Illumina wants to fix that problem. The company has launched the BioInsight Platform in San Diego. It is Illumina’s first all-in-one software environment built to help researchers turn complex genomic data into clear answers.

For over ten years, Illumina built separate software tools, AI programs, and data resources. Researchers often had to juggle these tools across different systems as their projects grew. The new platform brings everything into one place with a single login.

Rami Mehio leads the BioInsight team at Illumina. He explained that the platform provides customers with a single home for their software, AI, and data needs. And he noted that the team plans to add more features over time.

One big piece of the new platform is artificial intelligence. Illumina’s AI Lab builds models specifically for genomics. These models help researchers spot genetic patterns and predict how certain DNA changes affect health. For example, the platform includes the new SpliceAI2 model, which helps scientists study rare diseases.

Another key feature is the updated DRAGEN software, now at version 4.6. DRAGEN handles secondary analysis, which is the heavy lifting of processing raw genetic data.

Researchers navigate complex genomic and multiomic data

In the past, researchers faced strict rules about where their data could live. DRAGEN v4.6 introduces a new software mode. Now, organizations can run the tool across public cloud services and standard computer setups.

Researchers are already putting this to work. The Global Parkinson’s Genetics Program uses DRAGEN to run about 170 active projects investigating Parkinson’s disease. Andrew Singleton from the program said that the speed and scale allowed his team to focus on science rather than technical bottlenecks.

“GP2 is driving research all around the world to investigate genetic risk and broaden our understanding of Parkinson’s disease,” said Andrew Singleton from the Global Parkinson’s Genetics Program. “Software advances are crucial to help our researchers make sense of genetic data in a consistent, comprehensive, and scalable analysis environment. The combination of speed and scalability allows us to focus more on scientific questions and less on operational bottlenecks.”

The platform also includes a massive catalog of curated biological data. This catalog covers cancer, rare diseases, and population health. It takes both public and proprietary datasets and cleans them so scientists can compare findings across studies.

Instead of old-fashioned annual subscriptions, Illumina uses a credit system. Researchers buy credits to use the specific tools they need. This setup gives labs the freedom to try new features without committing to expensive software packages.

Illumina is showing off the new platform at the American Society for Human Genetics annual meeting in Montreal. Researchers who want to test it can also sign up for a free online trial.

By putting data, software, and AI under one roof, Illumina is cutting through the clutter.

This approach gives scientists a smoother path from raw genetic data to real-world discoveries in human health.