Latest version includes a prebuilt pangenome
capturing more genetic diversity, reducing ancestry bias, and
improving accuracy
SAN
DIEGO, June 11, 2024 /PRNewswire/ -- Illumina
Inc. (NASDAQ: ILMN), a global leader in DNA sequencing and
array-based technologies, today announced the launch of DRAGEN™
v4.3, the latest version of its DRAGEN™ software, part of the
Illumina Connected Software portfolio, for analysis of
next-generation sequencing data.
"We are excited to launch DRAGEN v4.3, with significant
enhancements and additions to our analysis tools, empowering
researchers and geneticists to maximize the value of the genome,"
said Rami Mehio, head of Software
& Informatics at Illumina. "DRAGEN v4.3 includes our
next-generation and most accurate multigenome mapping technology,
built-in mosaic calling, advancements in machine learning, and the
ability to genotype difficult genes to unlock deeper insights into
the human genome with greater power, accuracy, and efficiency."
DRAGEN's innovation in multigenome mapping complements the
efforts led by the Human Pangenome Reference Consortium (HPRC). The
HPRC, funded by the National Human Genome Research Institute, aims
to equip the genomics community with high-quality assemblies from
diverse ancestries and combine them into a reference human
pangenome.
"We have already delivered 47 high-quality assemblies that are
now used by researchers around the globe," said Karen Miga, PhD, director of the Reference
Production Center at the HPRC and assistant professor, Biomolecular
Engineering, University of California, Santa
Cruz. "With DRAGEN v4.3, and through the cloud apps, a
DRAGEN customer can now leverage all or a subset of the 47 HPRC
samples, allowing the user to select the ancestries of choice to
power their DRAGEN multigenome mapping."
Benedict Paten, PhD, co-lead of
the HPRC and associate professor, Biomolecular Engineering,
University of California, Santa Cruz,
added, "The accuracy improvement over traditional mapping is
substantial and is expected to continue to improve when additional
assemblies are incorporated in the pangenome."
DRAGEN v4.3 features a host of industry-leading innovations that
together enable a more comprehensive genome, including:
- Next-generation multigenome with 128 samples—DRAGEN's
multigenome reference mapping now harnesses the power of a prebuilt
pangenome derived from 128 samples across 26 ancestries, capturing
more genetic diversity, reducing ancestry bias, and improving
accuracy. Customers can build custom DRAGEN multigenome references
on the Illumina cloud.
- Machine learning mosaic model—A new feature in the small
variant caller enables mosaic variant calling for low allele
frequency variants, enhancing precision in translational and
research settings.
- A new family of specialized callers, with novel variant
discovery capability like multiregion joint detection. These
callers enable comprehensive genotyping of difficult genes in
segmental duplication regions, such as PMS2 for hereditary
cancer; SMN1, SMN2, STRC, and NEB for
carrier screening; and TTN and IKBKG for newborn
screening.
- AI-powered annotations—DRAGEN v4.3 features an updated
annotation engine, Connected Annotations, which leverages SpliceAI,
a state-of-the-art splicing prediction algorithm, and PrimateAI-3D,
a deep-learning network trained on millions of common genetic
variants from over 200 primate species that reduces variants of
unknown significance.
- Other advancements include RNA accuracy improvements and
the extension of lossless ORA compression functionality, which can
now support human methylation data and nonhuman data with a high
compression ratio.
Broad Clinical Labs has been systematically researching the
accuracy of variant calls made by DRAGEN v4.3. Marina DiStefano, PhD, FACMG, associate lab
director at Broad Clinical Labs, said: "We generated whole-genome
sequence data from samples with confirmed calls in genes covered by
DRAGEN v4.3 specialized callers, such as PMS2, NEB,
and HBA, and from samples with orthogonally confirmed CNV
calls. We also analyzed very-high-coverage WGS samples for mosaic
evaluation. We are happy with the accuracy and speed and believe
that DRAGEN v4.3 is a powerful tool for our clinical whole-genome
research."
Visit the DRAGEN page to learn more.
About DRAGEN
Illumina DRAGEN is a leading secondary analysis software in the
genomics market, and its continuous innovations have set new
standards for accuracy, comprehensiveness, and efficiency. DRAGEN
analysis leads in accuracy for germline and somatic variant calling
demonstrated in industry challenges from PrecisionFDA. With
availability across multiple deployment options, from a standalone
server to Illumina cloud solutions and on board select sequencers,
DRAGEN streamlines sequencing data acquisition and analysis.
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, manufacturing, and launching new
products and services; (ii) customer uptake of, and satisfaction
with, new products and services; and (iii) legislative, regulatory
and economic developments, 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,
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Contacts
Investors:
Salli Schwartz
858-291-6421
IR@illumina.com
Media:
Samantha Beal
PR@illumina.com
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SOURCE Illumina, Inc.