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.
Contacts
Investors:
Salli
Schwartz
858-291-6421
IR@illumina.com
Media:
Christine
Douglass
PR@illumina.com
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SOURCE Illumina, Inc.