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Illumina releases SpliceAI2 to help advance rare disease research. Science · OCT 8, 2026 PR Newswire In a rare disease research dataset, SpliceAI2 identified 17% more disease-relevant variants compared to other splicing models Illumina's genomic AI models... In a rare disease research dataset, SpliceAI2 identified 17% more disease-relevant variants compared to other splicing models Illumina's genomic AI models now collectively enable researchers to identify 2x as many variants with predicted biological impact SAN DIEGO, Oct. 8, 2026 /PRNewswire/ - Illumina, Inc. (NASDAQ: ILMN) today introduced SpliceAI2, a new genomic AI model designed to address one of the central challenges in genomics: understanding the functional consequences of genetic variation. SpliceAI2 helps researchers identify disease-relevant splice variants that otherwise may go unnoticed. Predicting splice effects is key to resolving variants of uncertain significance in rare disease research, hereditary cancer testing research, and drug discovery. When applied to a rare disease research dataset, SpliceAI2 identified 17% more disease-relevant variants compared to other splicing models. "Variant effect prediction tools, such as SpliceAI2, are among the key areas of focus for the BioInsight AI Lab," said Rami Mehio, senior vice president and general manager of BioInsight at Illumina. "As researchers work to elucidate the effect of mutations, we are uniquely positioned to unite genomic data and scientific expertise at scale, delivering the AI tools that can advance discovery and human health." The BioInsight AI Lab focuses on three main areas of scientific impact: generating genomic and multiomic data to power AI tools; developing genomic AI models for variant effect prediction and prioritization; and training biological foundation models. "Illumina is advancing AI to systematically shrink the portion of the genome that remains uninterpretable," said Kyle Farh, vice president of Illumina's BioInsight AI Lab. "Genomics has driven some of the most consequential genetic disease breakthroughs of the past two decades. Today, we are equipping researchers with the next generation of technology to help understand the underlying causes of disease." SpliceAI2, PromoterAI, and PrimateAI-3D form a suite of genomic AI models designed to help researchers assess the functional impact of genetic variation across a broad spectrum of variant effect types, including splice, promoter, and missense variants. Together, these genomic AI models now collectively enable researchers to identify up to twice as many variants with predicted biological impact. SpliceAI2 enables state-of-the-art variant interpretation across rare disease and population health research Accurate interpretation of the functional consequences of genetic variation remains a central challenge for life science research. Splicing is the process by which RNA transcripts are assembled before protein production. Splice variants can disrupt transcripts, alter gene function, and interfere with protein function. Cryptic splice sites contribute to a significant burden of rare disease cases but are challenging to identify through traditional approaches. SpliceAI2 improves researchers' ability to identify and interpret these variants and provides accurate prediction of cell type-specific splicing. A newly released preprint from Illumina's BioInsight AI Lab evaluated SpliceAI2's performance against the original SpliceAI and alternative splice prediction models. According to analyses of matched DNA and disease phenotype data from Genomics England cohorts, SpliceAI2 identified 17% more disease-relevant splice variants than other models. Analysis of matched whole genome and RNA sequencing data from the NIH's Genotype-Tissue Expression Portal showed that SpliceAI2 improved quantification of splice site usage by 34% compared to the next best model. SpliceAI2 results also aligned more closely with downstream protein effects seen in UK Biobank proteomic datasets and better captured the effects of splice variants across multiple population genomics datasets. Researchers worldwide already use genomic AI from Illumina to drive deeper insights into their sequencing data. The first generation of SpliceAI has become the splice variant prediction tool of choice for researchers, cited in over 3,400 publications to date. It is incorporated into guidelines from ClinGen, a clinical research body that sets standards for clinical genomics, for splice variant interpretation. Trained on a dataset that is 100 times larger than the original SpliceAI, SpliceAI2 advances the model through significantly improved prediction of splice variants, enabling the detection of more disease-relevant variants while reducing the overall number of variants requiring review. Customers on the frontline of rare disease and drug discovery research can easily access SpliceAI2 through Illumina's BioInsight applications, including DRAGEN Annotation for AI-powered and traditional variant annotation, and Emedgene for germline research. BioInsight is Illumina's data, software, informatics, and AI business, helping researchers, healthcare organizations, and biopharma companies transform genomic and multiomic data into biological insights. BioInsight enables customers to accelerate discovery, identify and validate drug targets, deepen understanding of disease biology, and advance precision medicine. BioInsight's growing portfolio includes the groundbreaking BioInsight AI Lab as well as resources such as the Billion Cell Atlas, which helps biopharma partners connect genetic signals to cellular mechanisms and biological function. Read the full preprint here 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: Illumina Investor Relations 858-291-6421 [email protected] SOURCE Illumina, Inc. Published by News Desk · WeeklyReviewer The WeeklyReviewer news desk monitors breaking developments around the clock - sourcing, verifying, and publishing real-time industry news across business, technology, politics, science, sports, and world affairs. Every story that comes through the Live Wire is reviewed for accuracy before publication, keeping our readers ahead of the curve without the noise.

ITJ launches Advisory Council of leading Life Sciences and healthcare technology executives. ITJ USA, Inc Oct 01, 2026, 13:05 ET Industry leaders from Thermo Fisher Scientific, Illumina, Rady Children's Health, UnitedHealthcare, and QuidelOrtho will help guide ITJ's next phase of growth as an AI-first engineering partner for Life Sciences. RANCHO SANTA FE, Calif., Oct. 1, 2026 /PRNewswire-PRWeb/ - ITJ, an AI-first engineering partner for Life Sciences companies, today announced the formation of its inaugural Advisory Council, bringing together four accomplished executives whose careers span healthcare technology, medical devices, diagnostics, operations, and enterprise transformation. The council brings decades of executive leadership from organizations at the forefront of healthcare innovation. As ITJ continues to expand its role as a strategic engineering partner, the Advisory Council will provide guidance on scaling delivery, strengthening customer partnerships, navigating regulated environments, and accelerating the responsible adoption of AI across the Life Sciences industry. The inaugural Advisory Council includes: Rob Bujarski - Managing Director of Summit Bioscience Strategies and former Chief Operating Officer of QuidelOrtho, bringing more than 20 years of experience across operations, commercial, and business development in diagnostics. A former ITJ client and, for the past two years, a close strategic advisor to the company. Albert Oriol - President of ALANJO Infonomics and former Chief Information Officer of Rady Children's Health. A Fellow of CHIME, Certified Healthcare CIO, and ORBIE Award recipient, Oriol helped lead the organization's growth from approximately $500 million to $4 billion in revenue. John Fry - Managing Director of Ops Advisors LLC and former operations executive at Thermo Fisher Scientific, where he led global operations strategy before serving as VP of Integrations and VP, Operations for the Specialty Diagnostics Group, overseeing large-scale post-merger integrations. Carissa Rollins - Managing Partner at AnchorPoint, former Global CIO of Illumina, and former CIO of UnitedHealthcare, where she oversaw approximately $2.9 billion in annual technology investments. She currently serves as an independent director on the board of Blue Cross Blue Shield of Minnesota. "At ITJ, we believe technology is at its best when it helps improve people's lives," said Maritza Diaz, CEO and Founder of ITJ. "That purpose has guided us from the beginning. As we continue to grow, we want to do it with the perspective of leaders who have built technology inside the same highly regulated environments our clients operate in. Their experience will help us become an even stronger partner for the organizations shaping the future of healthcare." "The organizations creating the greatest impact in healthcare are those that build trusted, long-term partnerships," said Albert Oriol. "ITJ has the opportunity to become that kind of partner for Life Sciences companies, and I'm excited to contribute to that journey." The Advisory Council recently held its inaugural meeting in Valle de Guadalupe, Baja California, reflecting ITJ's cross-border roots and its commitment to connecting exceptional engineering talent across the Americas with organizations advancing healthcare innovation. ITJ is an AI-first engineering partner specializing in Life Sciences, biotechnology, medical devices, and digital health. Headquartered in Rancho Santa Fe, California, with engineering delivery centers in Tijuana, Mexico, ITJ helps organizations build and scale high-performing software engineering teams through its Build-Operate-Manage model and specialized Centers of Excellence. Serving more than 1,200 engineering professionals, ITJ is ISO 27001 certified and has been recognized on the Inc. 5000 list as one of the fastest-growing private companies in the United States. Media Contact Gabriela Gutierrez, ITJ USA, Inc, 52 6507142040, [email protected], ITJ USA, Inc SOURCE ITJ USA, Inc

Latvian companies and researchers sign defense technology and genomics agreements as LIAA US trade mission concludes. Sep 30, 2026, 08:00 ET RIGA, Latvia, Sept. 30, 2026 /PRNewswire/ - A Latvian business trade mission to the United States organized by the Investment and Development Agency of Latvia (LIAA) has concluded with new cooperation agreements in defense technology and genomics. Held during the working visit of President of Latvia Edgars Rinkēvičs, the mission brought together 44 Latvian companies and organizations across four sector tracks in New York, Los Angeles and San Diego: startups, the film industry, defense and dual-use technologies, and biomedicine and pharmaceuticals. "The United States is a strategic market for Latvia. These agreements show that our companies and researchers can compete internationally with technology, expertise and manufacturing capabilities. We now expect this cooperation to deliver projects, orders and investment," said Raivis Bremšmits, State Secretary at the Ministry of Economics. In defense and dual-use technologies, ORIGIN Robotics and Anduril signed a memorandum of understanding on cooperation in counter-UAS air defense for NATO's eastern flank, including technology integration, testing and demonstrations in Latvia. The Latvian delegation also met with representatives of Neros, Shield AI, Kratos Defense & Security Solutions, Qualcomm, Axon and Analog Devices. President Rinkēvičs discussed a potential cooperation framework between Analog Devices, SAF Tehnika and Riga Technical University. Latvian participants presented capabilities in autonomous systems, secure communications, sensors, engineering and manufacturing, as well as locally developed energy solutions that could strengthen European supply resilience. In San Diego, the National Institute for Research and Innovations signed a memorandum with Element Biosciences to explore, test and develop new genomic technologies in Latvia. Illumina signed a separate memorandum with six Latvian institutions: the National Institute for Research and Innovations, Riga East University Hospital, Pauls Stradiņš Clinical University Hospital, Children's Clinical University Hospital, Rīga Stradiņš University and the University of Latvia. The agreement provides a framework for advancing genomics, precision medicine and the use of modern biomedical technologies to improve patient outcomes. In Los Angeles, Latvian film industry representatives met with Paramount Pictures, Warner Bros. Discovery, The Walt Disney Company, Lionsgate, Blumhouse Productions, Ketchup Entertainment and Netflix. Discussions focused on filming in Latvia, international co-productions, animation, post-production and content distribution. In New York, Latvian startups met with US investors and ServiceNow representatives and presented their solutions at the 'Pitch to a President' event. "The memoranda are the mission's most visible result, but its real value will be measured by the projects, investment and exports that follow. LIAA will continue working with the participants after the mission," said Ieva Jāgere, Director General of LIAA. Participation in the trade mission was organized by LIAA under the EU co-funded program for the development of innovative entrepreneurship by small and medium-sized enterprises, supported by the European Regional Development Fund and national funding. SOURCE Investment and Development Agency of Latvia (LIAA)