The Atlas will enable the validation of genetic targets and training of AI models at unprecedented scale

SAN DIEGO, Jan. 13, 2026 /PRNewswire/ -- Illumina, Inc. (NASDAQ:ILMN) today introduced the world's largest genome-wide genetic perturbation dataset, being built to accelerate drug discovery through AI across the pharmaceutical ecosystem. The Illumina Billion Cell Atlas is the first tranche of its program to build a 5 billion cell atlas over three years, and will be the most comprehensive map of human disease biology to date.

Under an alliance framework with AstraZeneca, Merck, and Eli Lilly and Company leading as founding participants, the Atlas is already in build for a curated set of cell lines to drive drug target validation, train advanced AI models at scale, and advance research into fundamental disease mechanisms that have previously been out of reach.

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

Merck will leverage the Atlas to accelerate precision medicine approaches across their drug discovery pipelines. The data will help train the company's proprietary AI/ML foundation models and build virtual cell models, with the aim of improving prediction of 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 —and translating those insights into novel targets and precision biomarkers that matter for patients," said Iya Khalil, vice president and head of Data, A.I. & Genome Sciences, Merck. "Through our close collaboration with Illumina, 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."

AI and human genomics form the new frontiers of biopharma discovery

The Atlas will capture how 1 billion individual cells respond to genetic changes via CRISPR across more than 200 disease‑relevant cell lines. These cell lines have been selected for their relevance to diseases, many of which have been historically difficult to decode, including immune disorders and cancer as well as cardiometabolic, neurological, and rare genetic diseases. This CRISPR technology enables researchers to rapidly study the effects of switching on and off all 20,000 genes in key cell types throughout the body.

The Atlas will enable users to characterize drug and disease mechanisms of action, explore potential new indications, and validate candidate targets 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," said Slavé Petrovski, vice president, Centre for Genomics Research, AstraZeneca. "By showing how specific genetic perturbations play out inside human cells, we can help turn genetic signals into mechanistic biology we can directly study, bringing greater clarity to drug development decisions."

"The next generation of AI‑driven drug discovery will depend on biological data at a scale never before achieved," said Ruth Gimeno, group vice president, Cardiometabolic Research, Eli Lilly and Company. "Comprehensive datasets spanning diverse cell types offer the critical foundation needed to generate meaningful insights into human disease."

How the BioInsight team built Illumina's first data product

The Atlas is the first data product to emerge from Illumina's new BioInsight business. The scale of the Atlas is feasible only with the power of the Illumina Single Cell 3' RNA prep platform, which enables millions of individual cells to be captured in a single experiment. The Atlas will generate data at a rate of 20 petabytes of single-cell transcriptomic data within a year. To handle data of this magnitude, single-cell RNA-sequencing data is processed using the Illumina's DRAGEN pipeline with hardware acceleration and then hosted on the Illumina Connected Analytics cloud platform for scalable analysis.

Illumina's newly-created BioInsight business is set to provide the foundational technologies and datasets to power the next generation of drug discovery and AI in pharma. By launching the Illumina Billion Cell Atlas and developing comprehensive, disease-specific perturbation datasets paired with advanced AI algorithms, Illumina is advancing the next-generation of cellular modeling.

Illumina is actively expanding multi-billion cell atlases over time with its partners. This new Billion Cell Atlas builds on Illumina's initiative announced last February to ultimately create a 5 billion single-cell resource.

Illumina CEO Jacob Thaysen will be presenting at the 44th Annual J.P. Morgan Healthcare Conference on January 13, 2026. The webcast can be accessed through investor.illumina.com. To learn more about the Illumina Billion Cell Atlas and other multiomics initiatives, visit this link.

Use of forward-looking statements

This release may contain forward-looking statements that involve risks and uncertainties. Among the important factors to which our business is subject that could cause actual results to differ materially from those in any forward-looking statements are: (i) challenges inherent in researching, developing and launching new technologies, including future multi-billion cell atlases; (ii) our and our partners' ability to deploy new products, services, and applications, and to expand the markets for genomics-related products and services; and (iii) the challenges associated with multiparty collaborations, including our reliance on the performance of such partners, together with other factors detailed in our filings with the Securities and Exchange Commission, including our most recent filings on Forms 10-K and 10-Q, or in information disclosed in public conference calls, the date and time of which are released beforehand. We undertake no obligation, and do not intend, to update these forward-looking statements, to review or confirm analysts' expectations, or to provide interim reports or updates on the progress of the current quarter.

About Illumina

Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as a global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging segments. To learn more, visit illumina.com and connect with us on X, Facebook, LinkedIn, Instagram, TikTok, and YouTube.

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SOURCE Illumina, Inc.

Illumina introduces Billion Cell Atlas to accelerate AI and drug discovery