Illumina, Inc. (NASDAQ: ILMN) has announced the launch of the world’s largest genome-wide genetic perturbation dataset, aimed at enhancing drug discovery through artificial intelligence. The Illumina Billion Cell Atlas, unveiled on January 13, 2026, in San Diego, marks the first phase of a broader initiative to create a comprehensive 5 billion cell atlas over the next three years. This effort is touted as the most extensive mapping of human disease biology to date, with the potential to significantly advance research and development in the pharmaceutical ecosystem.
The Atlas is being developed in collaboration with major pharmaceutical companies, including AstraZeneca, Merck, and Eli Lilly and Company, who are serving as founding participants. This collaborative framework aims to utilize a curated selection of cell lines to validate drug targets, train sophisticated AI models, and better understand complex disease mechanisms that have historically posed challenges for researchers.
“We believe the cell atlas is a key development that will enable us to significantly scale AI for drug discovery,” said Jacob Thaysen, CEO of Illumina. He emphasized that the resource being built will support the training of advanced AI models for precision medicine and drug target identification, which could help illuminate the biological pathways associated with severe diseases.
Merck plans to leverage the Atlas to enhance its precision medicine strategies within drug discovery pipelines. The dataset will facilitate the training of proprietary AI and machine learning models, enabling the development of virtual cell models that aim to improve predictions regarding disease indications. “By harnessing advanced genomic patient datasets, Merck scientists are building and leveraging AI models grounded in real biological variation — not just literature text,” stated Iya Khalil, Vice President and Head of Data, A.I. & Genome Sciences at Merck.
The Atlas is designed to capture the responses of 1 billion individual cells to genetic alterations through CRISPR technology, across more than 200 disease-relevant cell lines. These cell lines were selected for their relevance to various diseases, including immune disorders, cancer, and other complex conditions. This innovative technology allows researchers to rapidly investigate the effects of manipulating all 20,000 genes within critical cell types throughout the body. The resulting data will enable users to characterize drug and disease mechanisms, explore potential new indications, and validate candidate targets derived from human genetics.
“Translating genetic information into a clear understanding of disease mechanisms — and then ultimately into medicines — remains a core challenge in R&D,” noted Slavé Petrovski, Vice President of the Centre for Genomics Research at AstraZeneca. He pointed out that demonstrating how specific genetic perturbations influence human cells helps convert genetic signals into actionable biological insights, thereby informing drug development decisions.
Ruth Gimeno, Group Vice President of Cardiometabolic Research at Eli Lilly, echoed this sentiment, stating, “The next generation of AI-driven drug discovery will depend on biological data at a scale never before achieved.” She highlighted that comprehensive datasets across diverse cell types are essential for producing meaningful insights into human diseases.
The Billion Cell Atlas represents the inaugural data product from Illumina’s newly established BioInsight business. This scale of data generation, reaching up to 20 petabytes of single-cell transcriptomic data annually, is made possible by the capabilities of Illumina’s Single Cell 3′ RNA prep platform. The processing of this extensive data will utilize the DRAGEN pipeline with hardware acceleration, and the results will be hosted on the Illumina Connected Analytics cloud platform to facilitate scalable analysis.
Illumina’s BioInsight business aims to deliver foundational technologies and datasets to empower next-generation drug discovery and AI applications in pharmaceuticals. The Billion Cell Atlas will serve as a vital resource, complementing Illumina’s broader ambition of establishing multi-billion cell atlases in partnership with industry players. This initiative builds on a previous announcement in February, which outlined plans to create a 5 billion single-cell resource.
Thaysen is expected to present more details at the 44th Annual J.P. Morgan Healthcare Conference, where stakeholders can learn more about the Atlas and other multiomics initiatives that Illumina is pursuing. The event can be accessed through the company’s investor relations website.
The launch of the Illumina Billion Cell Atlas signals a significant advancement in the intersection of artificial intelligence and human genomics, offering unprecedented opportunities for pharmaceutical research and development. As the biopharma industry continues to evolve, this dataset may serve as a cornerstone for future innovations in precision medicine.
Illumina | Merck | AstraZeneca | Eli Lilly | CRISPR | Investor Relations
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