- TruPath™ Genome offers more complete genome, with the simplest sample to sequencer workflow
- Data presented at AGBT demonstrates TruPath Genome's accuracy in detecting rare genetic disease
- Broad Clinical Labs is among first to adopt product, which was previously known as "constellation mapped read technology"
- Researchers at University Medical Center Utrecht presented data evaluating TruPath Genome in challenging rare disease samples, with a particular focus on long–range phasing performance required to support non–invasive prenatal diagnostic (NIPD) assays, as well as resolution of difficult genomic regions and complex structural variants.
- At the recent Festival of Genomics & Biodata in London, researchers from the University of Exeter shared data on their pilot of TruPath Genome, which found that the technology resolved highly complex genomic regions, including a gene known to be associated with inherited adrenal disorders. While current short-read WGS requires parental samples to identify compound heterozygotes, TruPath Genome offers a single-sample path to these insights, improving coverage for samples processed without parental data.
SAN DIEGO, Feb. 25, 2026 /PRNewswire/ -- Illumina, Inc. (NASDAQ: ILMN) today announced the launch of TruPath™ Genome, setting a new standard for high-quality, comprehensive whole genome insights for genetic disease. TruPath Genome has been found to deliver unparalleled accuracy and resolution—even across so-called "dark regions" of the genome—providing researchers with a more complete picture of genomic alterations implicated in genetic disease.
With an incredibly simple workflow, TruPath Genome eliminates traditional library prep. In about 10 minutes of hands-on time, TruPath Genome generates 16 whole genomes per day, nearly double the throughput of competing long-read methods, and with fewer errors.
TruPath Genome leverages novel on-flow cell library preparation with patterned flow cell technology and advanced informatics to seamlessly add long-distance insights for comprehensive variant detection. DRAGEN™ algorithms tuned to incorporate proximity information from TruPath flow cells improve read alignment and variant calling, extending Illumina high-quality reads to difficult-to-map regions, variant phasing, structural variants, short tandem repeats (STR), and clinically relevant paralogous genes. TruPath Genome fully phases up to 98% of genes.
"With TruPath Genome, we are pushing the boundaries of genomics and setting a new standard for genetic and rare disease research," said Steve Barnard, PhD, chief technology officer of Illumina. "In rare disease, you're often looking for a variant needle in a genomic haystack—and comprehensiveness, accuracy, and confidence matter. This technology unlocks rapid answers to shed light on the genomic drivers of genetic disease with an ease that was never thought possible."
TruPath Genome delivers a highly cost-effective whole genome workflow, at an industry standard depth of at least 30x coverage with single-use flow cell, which is critical in clinical research.
Data presented at AGBT illustrates a short-read path to long-distance insight
Data presented today at AGBT and in previous publications illustrates how TruPath Genome is already shedding light on some of the most challenging genetic diseases, including spinal muscular atrophy, kidney disease, and complex adrenal disorders.
SAN DIEGO, Feb. 25, 2026 /PRNewswire/ -- Illumina, Inc. (NASDAQ: ILMN) today announced the launch of TruPath™ Genome, setting a new standard for high-quality, comprehensive whole genome insights for genetic disease. TruPath Genome has been found to deliver unparalleled accuracy and resolution—even across so-called "dark regions" of the genome—providing researchers with a more complete picture of genomic alterations implicated in genetic disease.
With an incredibly simple workflow, TruPath Genome eliminates traditional library prep. In about 10 minutes of hands-on time, TruPath Genome generates 16 whole genomes per day, nearly double the throughput of competing long-read methods, and with fewer errors.
TruPath Genome leverages novel on-flow cell library preparation with patterned flow cell technology and advanced informatics to seamlessly add long-distance insights for comprehensive variant detection. DRAGEN™ algorithms tuned to incorporate proximity information from TruPath flow cells improve read alignment and variant calling, extending Illumina high-quality reads to difficult-to-map regions, variant phasing, structural variants, short tandem repeats (STR), and clinically relevant paralogous genes. TruPath Genome fully phases up to 98% of genes.
"With TruPath Genome, we are pushing the boundaries of genomics and setting a new standard for genetic and rare disease research," said Steve Barnard, PhD, chief technology officer of Illumina. "In rare disease, you're often looking for a variant needle in a genomic haystack—and comprehensiveness, accuracy, and confidence matter. This technology unlocks rapid answers to shed light on the genomic drivers of genetic disease with an ease that was never thought possible."
TruPath Genome delivers a highly cost-effective whole genome workflow, at an industry standard depth of at least 30x coverage with single-use flow cell, which is critical in clinical research.
Data presented at AGBT illustrates a short-read path to long-distance insight
Data presented today at AGBT and in previous publications illustrates how TruPath Genome is already shedding light on some of the most challenging genetic diseases, including spinal muscular atrophy, kidney disease, and complex adrenal disorders.
"TruPath Genome enabled us to consolidate multiple analyses into a single, easy–to–implement whole–genome assay," said Marcel Nelen, PhD, head of the Genome Diagnostic Laboratory at UMC Utrecht. "Despite the simplicity of the workflow, we achieved megabase–scale phasing, full resolution of clinically relevant genes, and improved interpretation of difficult regions—even a particularly challenging case in the notoriously complex SMN1/SMN2 region—as well as complex structural variants. This represents an important step toward a single assay capable of addressing many rare disease research questions without additional orthogonal testing."
"TruPath Genome opens up a future where every patient affected by a rare genetic condition can receive rapid comprehensive whole-genome testing to end diagnostic odysseys and identify possible precision treatments," said Emma Baple, PhD, professor of Genomic Medicine at the University of Exeter and medical lead for the NHS England Rapid Genome Sequencing Service for Critically Unwell Children. "In Exeter, we have been privileged to evaluate the TruPath technology and seen the potential to change the lives of affected children and their families. We are eager to see how this innovation evolves, as these types of solutions will transform how rare conditions are diagnosed."
Broad Clinical Labs is among the first to adopt TruPath Genome, which will make this important technology available to their collaborators in rare disease research.
"TruPath means a more comprehensive genome to drive our research," said Sean Hofherr, PhD., FACMG, chief of clinical strategy and product development, Broad Clinical Labs. "This technology delivers an impressive ability to interrogate even the most challenging variants in the genome, all in a stunningly simple workflow. And, being able to run it on the NovaSeq X Plus is attractive."
More than 30 early access customers have been piloting the technology over the past 16 months, including GeneDx, Rady Children's Hospital, and Baylor College of Medicine. Baylor College of Medicine recently published a pre-print on the technology in medRxiv.
"We remain committed to advancing the accessibility of genomics through continuous innovation, delivering streamlined end-to-end workflows and comprehensive genomic insights to address the most challenging rare genetic diseases," said Jenny Zheng, Senior Vice President and General Manager of Greater China at Illumina. "In Greater China, we will deepen our collaboration with clinical and research experts to accelerate the transformation of cutting-edge technologies from research into clinical practice, ensuring our innovations truly reach patients. On this occasion of Rare Disease Day, we stand ready to illuminate the path forward for more families navigating the diagnostic odyssey."
The TruPath Genome launch was unveiled today during the Gold Sponsor Workshop at the Advances in Genome Biology and Technology (AGBT) annual meeting in Orlando. Register here for the replay.
TruPath Genome was previously referred to as "constellation mapped read technology." Learn more about TruPath Genome here.
* TruPath Genome carries a list price of $395 USD (exclusive of duties and shipping), including all consumables and analysis.
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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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Illumina launches TruPath Genome, setting a new standard in genomic insight
