Illumina DRAGEN v4.3 powers most comprehensive, accurate genome with industry-leading innovations
Illumina launched DRAGEN v4.3, an advanced software version for analyzing next-generation sequencing data. DRAGEN v4.3 introduces innovative features like a prebuilt pangenome from 128 samples across 26 ancestries, reducing ancestry bias and improving accuracy. The software also includes machine learning enhancements for mosaic variant calling, specialized variant discovery callers, and AI-powered annotations using SpliceAI and PrimateAI-3D. These upgrades aim to provide comprehensive and accurate genomic insights. The Human Pangenome Reference Consortium (HPRC) supports these efforts, having delivered 47 high-quality assemblies for diverse ancestries. Broad Clinical Labs confirmed DRAGEN v4.3's accuracy and speed in variant calling and clinical whole-genome research.
- Introduction of a prebuilt pangenome derived from 128 samples across 26 ancestries, boosting genetic diversity and accuracy.
- Machine learning advancements for better mosaic variant calling.
- New specialized variant discovery callers for comprehensive genotyping of difficult genes.
- AI-powered annotations with SpliceAI and PrimateAI-3D, enhancing variant interpretation.
- Support from the Human Pangenome Reference Consortium, adding significant credibility.
- Broad Clinical Labs confirmed the accuracy and speed of DRAGEN v4.3 in clinical research.
- The press release does not provide specific financial data or projections, making it difficult to assess the immediate financial impact.
- No information on pricing or potential cost increases for users upgrading to DRAGEN v4.3.
Insights
The launch of DRAGEN v4.3 by Illumina introduces significant enhancements in genomic mapping and analysis, particularly with its integration of a prebuilt pangenome consisting of 128 samples from 26 ancestries. This reduces ancestry bias and boosts accuracy, making genomic data more inclusive and comprehensive. The updated multigenome mapping technology and new machine learning mosaic models are game-changers for both research and clinical settings. These advances help navigate complex genomic regions and enhance precision, which is essential for applications like hereditary cancer screening and newborn screening. For retail investors, understanding these technological improvements is key to appreciating Illumina’s position in the genomics sector and the potential for increased demand for their cutting-edge tools.
Illumina's release of DRAGEN v4.3 could have a substantial impact on the company's financial performance. Cutting-edge software enhancements tend to drive adoption rates among research institutions and clinical labs, potentially leading to increased revenue streams. Moreover, given Illumina's strong market position, these innovations position the company favorably against competitors. It's also important to note that advanced functionalities like AI-powered annotations and lossless ORA compression could lower operational costs and improve efficiency for users, further cementing client loyalty. The expansion of their software capabilities aligns well with broader market trends in personalized medicine and precision health, promising growth opportunities in these high-demand areas.
Latest version includes a prebuilt pangenome capturing more genetic diversity, reducing ancestry bias, and improving accuracy
"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
Benedict Paten, PhD, co-lead of the HPRC and associate professor, Biomolecular Engineering, University of
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, LinkedIn, Instagram, TikTok, and YouTube.
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SOURCE Illumina, Inc.
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