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Illumina releases enhanced genome mapping software

EditorNatashya Angelica
Published 2024-06-11, 12:34 p/m
ILMN
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SAN DIEGO - Illumina Inc. (NASDAQ: NASDAQ:ILMN), known for its DNA sequencing technology, has introduced DRAGEN v4.3, the latest update to its software designed for next-generation sequencing data analysis. This release is part of the company's Illumina Connected Software suite and aims to provide improvements in genetic research accuracy and efficiency.

The new version of DRAGEN features advancements in multigenome mapping, which now includes a prebuilt pangenome with 128 samples across 26 ancestries. This enhancement is expected to capture a broader genetic diversity, reduce ancestry bias, and increase mapping accuracy. The update aligns with the Human Pangenome Reference Consortium's (HPRC) initiative, which has delivered 47 high-quality assemblies for global research use.

Rami Mehio, head of Software & Informatics at Illumina, stated that DRAGEN v4.3's next-generation multigenome mapping technology and built-in mosaic calling are among the significant enhancements. The software also incorporates advancements in machine learning and genotyping capabilities for complex genes.

Karen Miga, PhD, of the HPRC and the University of California, Santa Cruz, mentioned that DRAGEN customers could leverage the HPRC samples through cloud apps, selecting ancestries to power their multigenome mapping. Benedict Paten, PhD, co-lead of the HPRC, noted the substantial accuracy improvement over traditional mapping methods.

Additional features of DRAGEN v4.3 include a machine learning-powered mosaic model for low allele frequency variant calling, specialized callers for difficult genes, and AI-powered annotations that utilize algorithms like SpliceAI and PrimateAI-3D. The software also offers RNA accuracy improvements and extends lossless ORA compression functionality to support various data types.

Broad Clinical Labs has been evaluating the accuracy of variant calls made by DRAGEN v4.3. Marina DiStefano, PhD, associate lab director at Broad Clinical Labs, expressed satisfaction with the software's accuracy and speed, deeming it a powerful tool for clinical whole-genome research.

Illumina's DRAGEN software is recognized for its accuracy in germline and somatic variant calling, as demonstrated in industry challenges from PrecisionFDA. The software offers flexibility with multiple deployment options, including a standalone server, cloud solutions, and integration with select sequencers.

The company's forward-looking statements in the release acknowledge the risks and uncertainties inherent in launching new products and services. This article is based on a press release statement from Illumina Inc.

In other recent news, Illumina has been the subject of several significant developments. Evercore ISI has revised its financial outlook for Illumina, reducing the price target to $175 from $195 while maintaining an Outperform rating. The firm projects a standalone earnings per share (EPS) of over $4.50 for the fiscal year 2025, based on anticipated 6% organic growth.

Illumina has also announced the spin-off of its healthcare company, GRAIL, scheduled for June 24. This move will result in Illumina shareholders receiving one share of GRAIL for every six shares of Illumina they own, with Illumina retaining a 14.5% stake in GRAIL post-spinoff.

In the realm of personnel changes, Everett Cunningham has been appointed as the new Chief Commercial Officer (CCO) of Illumina, effective from June 10. Cunningham's appointment is expected to strengthen Illumina's market position in next-generation sequencing.

Analyst notes from both Canaccord Genuity (TSX:CF) and Jefferies have maintained a Hold rating on Illumina's shares, citing the valuation of GRAIL as uncertain. These are among the recent developments that have shaped Illumina's current business landscape.

InvestingPro Insights

As Illumina Inc. (NASDAQ: ILMN) continues to innovate with its DRAGEN v4.3 software, the financial community is keeping a close eye on the company's performance metrics. According to InvestingPro data, Illumina currently holds a market cap of approximately $17.49 billion, reflecting its significant presence in the biotechnology sector.

Despite facing challenges, as evidenced by a negative Price-to-Earnings (P/E) ratio of -13.46, the company shows a notable gross profit margin of 65.72% for the last twelve months as of Q1 2023. This robust margin underscores the company's ability to maintain profitability in its core operations, even as it invests in new technologies like DRAGEN v4.3.

InvestingPro Tips highlight a significant return over the last week, with a price total return of 7.6%, suggesting a positive reaction from the market to recent company developments or broader market trends. However, it's important to note that analysts have revised their earnings downwards for the upcoming period, indicating potential concerns about future profitability. Moreover, the company does not pay a dividend to shareholders, which may influence investment decisions for those seeking regular income streams.

For investors seeking deeper insights and more InvestingPro Tips, there are currently 6 additional tips available on Illumina, which can be accessed through InvestingPro's dedicated platform. To make the service even more accessible, users can use the coupon code PRONEWS24 to get an additional 10% off a yearly or biyearly Pro and Pro+ subscription.

This article was generated with the support of AI and reviewed by an editor. For more information see our T&C.

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