JPM: Illumina launches 'unprecedented' disease biology atlas

Illumina has unveiled a database of genomic alterations, called the Billion Cell Atlas, that can be used to identify and validate drug targets and train AI models used in drug discovery.

The first iteration of the disease biology tool, which will be expanded to include five billion cells within three years, was presented for the first time at the JPM Healthcare meeting in San Francisco. Pharma groups AstraZeneca, MSD, and Eli Lilly have partnered with Illumina on the resource.

According to the gene sequencing specialist, the Atlas is already the world's largest genome‑wide genetic perturbation dataset, currently drawn from sequence data from 150 million cells. It uses CRISPR to switch on and off 20,000 genes across 250 disease-relevant human cell types to build a map of biological activity in health and disease.

The cell lines chosen for the project include historically hard-to-decode cells involved in cardiometabolic disease, neurological disease, immune disorders, rare genetic diseases, and cancer, said the company.

The launch is a pivotal moment for Illumina, broadening its historic focus on next-generation sequencing (NGS) of DNA and building on its recently set up BioInsight business unit, which is tasked with developing data assets, software, and AI for life sciences research and expanding pharma access to multiomics data.

A key part of BioInsight is to work with industry partners on large-scale genetic and biological data generation projects, and the Atlas is the first fruit of that initiative.

"We believe the cell atlas is a key development that will enable us to significantly scale AI for drug discovery," said Jacob Thaysen, Illumina's chief executive.

"We are building an unparalleled resource for training the next generation of AI models for precision medicine and drug target identification, ultimately helping map the biological pathways behind some of the world's most devastating diseases," he added.

At JPM, Thaysen said that Illumina's future lies in finding growth from three areas: sequencing, multiomics, and expansion of services into data and software for drug discovery and clinical translation through BioInsight. The company returned to growth in 2025 after seeing several years of declining revenues caused by a mature sequencing market and increased competition.

MSD – known as Merck & Co in the US and Canada – has already started using the Atlas in its drug discovery operations; for example, to train its AI foundation models and build 'virtual cells' that can be used to study disease.

The partners say the technology – which will be offered to additional companies – can enable users to characterise drug and disease mechanisms of action, explore potential new indications for therapeutics, and validate candidate targets from human genetics.

"We're establishing a scalable bridge from genomic insight to therapeutic impact, accelerating the path from discovery to the clinic and enabling a deeper understanding of complex disease biology with unprecedented confidence and speed."