Illumina transforms multiomic research with new technologies to unlock deeper understanding of biology

Company expands multiomics portfolio with new roadmap technologies spanning genomics, spatial, single cell, CRISPR, and methylation, as well as a new multimodal data analysis platform

Built on Illumina's powerful sequencers, new, disruptive omics solutions surpass industry standards for quality, scale, accuracy, and replicability

SAN DIEGO, Feb. 24, 2025 /PRNewswire/ -- Illumina, Inc. (NASDAQ:ILMN) has unveiled a series of roadmap innovations, establishing the industry's largest portfolio of omics solutions and sequencing applications. The solutions – spanning genomics, spatial transcriptomics, single cell analysis, CRISPR technologies, epigenetics, and data analytics software – will enable researchers to derive breakthrough insights around the drivers of disease. The new omics solutions surpass industry standards for scale, accuracy, and reliability because they are built on Illumina's powerful sequencers, known for unmatched quality, consistency, and accuracy. The expanded multiomics portfolio will be presented today at the Advances in Genome Biology and Technology (AGBT) General Meeting.

"Illumina is the backbone of innovation for our industry, and we're bringing disruptive, new solutions at a scale that only Illumina can deliver," said Jacob Thaysen, CEO of Illumina. "Illumina has paved the way for genomic breakthroughs, and now we are committed to accelerating advances on all frontiers of multiomics. Our technologies will help researchers gain a more complete understanding of biology, accelerating the translation of data into insights that can truly unlock precision health care."

"Illumina is doing what we do best: breaking new ground and setting the standard," said Steve Barnard, PhD, chief technology officer of Illumina. "Just as researchers have come to rely on an accurate, complete and comprehensive view of the genome, Illumina is now bringing the same attributes to the entire range of multiomics exploration, with the complete workflows needed to ensure value and usability. These solutions represent a leap forward in discovery, and we can't wait to bring these solutions into more labs."

Illumina's announcements at AGBT drive new scale, quality in multiomic discovery

Illumina's AGBT Gold Sponsor Workshop today will showcase the latest advances across a range of multiomic capabilities enabled on Illumina's sequencing platforms and supported by its new multimodal data analysis platform. The updates illustrate Illumina's continued commitment to provide customers with end-to-end solutions that streamline and simplify workflows, and its growing portfolio of multiomics offerings, which includes Illumina Single Cell and Illumina Protein Prep.

• Constellation mapped reads unlocks new possibilities in rare disease detection. Illumina's constellation mapped reads technology is designed to deepen understanding of the genome and streamline whole-genome workflows while eliminating traditional library prep. The technology is currently in development, and early testing demonstrates enhanced mapping of challenging genomic regions, ultra-long phasing, and improved detection of large structural rearrangements. These advances show promise to support faster and more comprehensive detection of disease.

Stephen Kingsmore, MD, DSc, president and CEO of Rady Children's Institute for Genomic Medicine, will share his experience with constellation mapped read technology and the potential impact for comprehensive, rapid WGS that can enable earlier diagnosis of genetic and rare diseases.

"Constellation's ability to provide a high-resolution view of structural variation — including the most common cause of hemophilia A in boys, which was impossible with standard methods — is an impressive advance in genome sequencing," said Kingsmore. "Previously these variants had to be identified by custom one-off assays that typically took a month or more. Constellation makes it possible to go from rapid sequencing to insights in just over a day." 

Kingsmore will also present an abstract in a concurrent session, "A novel WGS workflow to aid in the design of allele-specific antisense oligonucleotides for patients with rare genetic conditions," on Monday, February 24, 4:30–4:50 p.m. ET. Products based on constellation mapped reads technology are expected to be commercially available in 2026.

• Illumina unveils a single-cell solution for CRISPR research. Single-cell technology has the potential to uncover critical biological insight across a broad range of research fields, including oncology, immunology, and drug target discovery. The company's new Perturb-seq solution brings new capabilities into Illumina's multiomics portfolio at unprecedented scale for Perturb-seq experiments, enabling discovery of mechanism of action for drugs and clinical research on therapeutic treatments for complex genetic diseases at the single-cell level. This technology will also be used in a collaboration announced last week with Broad Clinical Labs, aimed at rapidly scaling single-cell solutions and enabling a 5 billion single-cell atlas ecosystem within three years.

The solution is expected to launch by the end of 2025 with three new kit formats that are compatible with 10,000, 100,000, and 1 million cells per sample, facilitating targeted studies with 100 guide RNA (gRNA) sequences to full genome-scale discovery with over 10,000 gRNAs per experiment. The solution leverages new improvements on the foundational Fluent PIPseq technology for dual measurement of CRISPR gRNA sequences and 3' RNA gene expression in the same assay. The gRNA direct capture provides a more cost-effective workflow, improved sensitivity, and higher scalability than current single-cell kits.

The solution will provide single-cell readout of CRISPR activation, inactivation, or targeted gene editing Perturb-seq experiments for exciting applications, including cell atlasing or drug screening research. The kits are compatible across Illumina sequencers, and the workflow includes DRAGEN Single Cell RNA Analysis for CRISPR gRNA screening through Illumina software.

• Illumina's 5-base solution for methylation analysis and variant calling powers accuracy of genetic and epigenetic data. Currently in early access, Illumina's 5-base solution for methylation analysis enables simultaneous genetic variant and methylation detection in a single assay. DNA methylation impacts how and when genes are expressed. The ability to detect and analyze DNA methylation can improve researchers' understanding of how DNA methylation patterns influence biological processes like development, cell differentiation, tumor progression, and environmental exposures. Ultimately, it can help researchers identify potential biomarkers for detection, diagnosis, and treatment strategies.

Planned for launch in 2026, Illumina's solution will provide 5-base insights into the genome, cell-free DNA, or targeted assays through a single library preparation, sequencing, and analysis run, enabling deeper understanding of the genome while remaining cost effective. Currently, industry barriers to adoption of 5-base solutions include cost, usability, and lack of reliable analytics solutions. Existing offerings for simultaneous DNA and methylation detection are limited in the accuracy they can achieve for both genetic and epigenetic data. Illumina's solution aims to address these barriers by delivering the easiest, most cost effective end-to-end solution for high-accuracy detection of both genetic variants and methylation in a single assay.

Early access customer data will be presented by Bekim Sadikovic, PhD, director of the Molecular Genetics Laboratory at London Health Sciences Centre Research Institute, in a concurrent session on Tuesday, February 25, 9:10–9:30 p.m. ET, titled, "Novel integrated platform for simultaneous detection of genetic variants and epigenetic signatures in rare undiagnosed genetic diseases."

• Illumina brings spatial transcriptomics to scale. Announced last week, Illumina will also showcase its new spatial transcriptomics technology, which delivers cellular resolution across millions of cells per slide, driving new avenues for research and discovery. Because it is powered by Illumina sequencers and integrated multimodal analysis software, Illumina's spatial technology delivers a scale in whole transcriptome research that has never before been possible. The technology boasts a capture area nine times larger than existing technologies, and with four times greater resolution. The Broad Institute and Illumina will collaborate on a groundbreaking Spatial Flagship Project, leveraging Illumina's new spatial technology to demonstrate the transformative potential of large-scale spatial datasets.

Spatial transcriptomics allows researchers to explore biological interactions at the cellular level. For instance, through "cell atlasing," which maps the detailed arrangement of cells, researchers can gain novel insights into complex tissue structures that affect disease. Illumina's spatial technology will fuel life sciences breakthroughs ranging from tumor microenvironments to disease pathways, neurobiology, immuno-oncology, and more. As a complete end-to-end solution, it will also deliver the highest value for single-cell and spatial researchers at a more affordable price point. Commercial launch of the technology is planned for 2026.

• Illumina Connected Multiomics (ICM) delivers Illumina's first fully integrated multimodal analysis software. Offering seamless sample-to-insights workflows, ICM is a multiomics analysis solution that helps researchers explore and analyze multimodal data sets, unlocking deeper biological insights. It's a simple, intuitive tool that any scientist – even without a bioinformatics background – can use to generate powerful statistics and interactive visualizations. This comprehensive analytics platform replaces the need for various open-source tools, which can be difficult and time-consuming to set up and maintain. ICM will deliver the reliable, accurate, and integrated insights needed to overcome barriers to breakthroughs from layers of omic data.

The company's Gold Sponsor Workshop at AGBT will be held February 24, 12–1:30 p.m. ET. Illumina will demonstrate its end-to-end workflows throughout the AGBT conference in Osprey Lounge 1. To learn more about Illumina's multiomic solutions, visit illumina.com/innovation.

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 developing and launching new products and services, including modifying and scaling manufacturing operations, and reliance on third-party suppliers for critical components; (ii) our ability to manufacture robust instrumentation and consumables; and (iii) the acceptance by customers of our newly launched products, which may or may not meet our and their expectations, 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.