The American Society of Human Genetics (ASHG) 2025 annual meeting took place in Boston last week, opening with a presidential address by ASHG President Sarah Tishkoff. She honored former NIH Director Francis Collins for his decades of leadership and impact on the genetics community. Both Tishkoff and Collins reflected on the field’s progress and expressed optimism about new treatments for genetic diseases. They also urged scientists to advocate for restoring NIH funding amid the ongoing government shutdown and widespread research cuts, warning that terminated grants and halted collaborations threaten U.S. scientific leadership.
Although no new sequencing platforms debuted this year, the meeting featured a range of noteworthy updates that captured strong interest from attendees. Many focused on improving speed, data quality, and accessibility across existing technologies. Researchers left Boston eager to apply these developments in their work. This article highlights the significant industry announcements from ASHG 2025.
Roche Highlights SBX Innovation
At the meeting, Roche presented major advances in its sequencing by expansion (SBX) technology and the upcoming Axelios platform. In collaboration with Broad Clinical Labs and Boston Children’s Hospital, Roche set a new Guinness World Record for sequencing and analyzing a complete human genome in under four hours.1 The achievement demonstrates the potential of SBX for rapid diagnostics in neonatal and critical care settings.
Roche also announced a partnership with the Wellcome Sanger Institute to evaluate SBX for bulk RNA sequencing and isoform detection. Additional studies featured applications in methylation mapping with SBX-Duplex, spatial sequencing of lung cancer tissue, and high-accuracy target enrichment. The company further disclosed pricing for the Axelios sequencing system, expected to launch in early 2026 at $750,000, with consumable costs anticipated to be competitively positioned among high-throughput platforms.
PacBio Expands Long-Read Capabilities
Pacific Biosciences (PacBio) announced updates to its Revio and Vega long-read sequencing platforms with the release of the new SPRQ-Nx chemistry and automated SMRT Cell reuse. These advances are designed to reduce whole genome sequencing costs to $300–$350 per genome. SPRQ-Nx increases yields by 10–15% and enables 5hmC detection for epigenetic profiling. The reuse feature supports multiple library loads per flow cell, improving efficiency and reducing waste. PacBio also expanded its PureTarget capture system with 96 barcodes and automation support to streamline workflows in research and clinical laboratories. Beta testing of SPRQ-Nx will begin in November 2025, with full commercial availability expected in 2026.
Plasmidsaurus Speeds RNA Analysis
Plasmidsaurus launched an ultrafast RNA-seq service at the meeting, extending its sequencing-as-a-service model to Illumina short reads. The service delivers fully analyzed expression data in as little as three days, priced at $50 per sample for academia and $80 for industry. Users can submit cultured cells in Zymo DNA/RNA Shield at room temperature, with no library prep, minimum order, or quotes. Interactive analysis tools are also included at no additional cost.
Oxford Nanopore Expands PromethION
Oxford Nanopore Technologies announced updates to its PromethION platform with the launch of the PromethION Plus Flow Cell, an ultra-high-output design optimized for 15–30 kb fragment libraries. The new flow cells provide higher data output, require less input material, and remove the need for wash steps. PromethION Plus Flow Cells will be released in limited quantities in Q4 2025, with broader availability in 2026. Oxford Nanopore also introduced adaptive sampling workflows for hereditary cancer panels, tumor methylation profiling, and pharmacogenomics, along with a 24-hour whole genome workflow for rapid analysis in neonatal and rare disease research.
Complete Genomics Expands Spatial and NGS Tech
Complete Genomics announced several milestones at ASHG 2025, including its first DNBSEQ User Group Meeting to connect researchers and highlight advances in oncology, rare disease, and population genomics. The company emphasized the U.S. launch of the DNBSEQ-T1+RS sequencer, now shipping for scalable and cost-effective applications in single-cell, exome, and oncology research. Addditionally, the STOmics product line expanded with larger spatial chips and new reagent kits for high-performance spatial transcriptomics. Collaborations with the Mayo Clinic, Salk Institute, and Bio-Rad aim to advance spatial and single-cell research, while the expansion of the San Jose manufacturing facility and ISO 13485:2026 certification improve local production and quality management.
Bio-Rad’s High-Quality Single-Cell Results
Scientists from Bio-Rad presented a cost-effective single-cell RNA sequencing workflow that combines the Bio-Rad ddSEQ Single-Cell 3’ RNA-Seq Kit with the Complete Genomics DNBSEQ-T1+RS sequencer. The study achieved over 92% of reads at Q40 accuracy and about 10% higher sensitivity, detecting more genes per cell than standard systems. The DNBSEQ-T1+RS identified up to three times more unique genes, demonstrating strong transcript detection and efficient sequencing performance. The workflow was compatible across diverse cell types, reduced bias, and produced reproducible results.
Illumina Advances Multiomic Capabilities
Illumina presented updates on its Constellation and 5-base technologies. GeneDx evaluated the new Constellation mapped read technology in a pilot study that demonstrated accuracy and speed in detecting hard-to-map variants associated with rare diseases. The data showed that Constellation identified complex variants such as repeat expansions in DMPK, SMN1, and NCF1 using mapped reads that capture long-range genomic information with short-read systems. Illumina expects to launch the technology commercially in 2026 for NovaSeq X systems.
The company also announced broad availability of its 5-base multiomics solution, which simultaneously detects genomic variants and DNA methylation using new chemistry compatible with NovaSeq and NextSeq 2000 systems. Powered by proprietary chemistry and DRAGEN algorithms, the workflow supports precision medicine research. Early results from the London Health Sciences Centre demonstrated its effectiveness in resolving complex rare disease cases.
Stellaromics Installs Pyxa System
Stellaromics announced the first installation of its Pyxa 3D spatial transcriptomics system at the University of Glasgow, marking the start of external beta testing. Led by Dr. Nigel Jamieson, researchers will use Pyxa to investigate tumor microenvironments in three dimensions, mapping invasion dynamics and cellular interactions that cannot be captured with 2D methods.
MyHeritage Adopts Ultima and Whole Genomes
MyHeritage announced the transition of its consumer DNA test to whole genome sequencing using Ultima Genomics technology and processing at Gene by Gene’s Houston laboratory. The company becomes the first major DNA testing provider to implement WGS at a scale exceeding one million tests annually, improving accuracy for ethnicity analysis and genetic genealogy without raising costs for consumers.
Baylor Genomics Presents RNA-Seq
Scientists from Baylor Genetics presented research showing that RNA sequencing improves rare disease diagnosis by reclassifying variants missed by genome and exome testing. In 3,594 cases, targeted RNA-seq clarified half of the eligible variants, while whole-transcriptome RNA-seq identified new molecular diagnoses in 24% of previously undiagnosed patients.
Agilent Enhances Genomic QC
Agilent highlighted the High Sensitivity Genomic DNA ScreenTape assay, designed for accurate quality control of low-input or degraded DNA in next-generation sequencing workflows. Compatible with Agilent TapeStation systems, the assay detects as little as 20 pg/µL, quantifies DNA integrity and concentration from 0.5–10 ng/µL, and provides rapid, automated results from minimal sample volumes.
Genomics Launches Mystra Platform
The Oxford-based genetics research and data analysis company Genomics launched Mystra, an AI-powered human genetics platform that integrates large-scale multiomic datasets to accelerate drug target discovery and validation. Built on the world’s largest genotype-phenotype database, Mystra supports faster analysis, stronger evidence-based decisions, and improved R&D productivity across the pharmaceutical and biotech sectors.
Biggest Takeaways
- Sequencing costs drop with new tech, chemistries, and flow cell reuse from PacBio and Roche.
- Multiomic analysis expands through Illumina’s 5-base and Oxford Nanopore updates.
- Spatial and single-cell tools grow via launches from Complete Genomics, Bio-Rad, and Stellaromics.
- Automation accelerates workflows with Plasmidsaurus RNA-seq and Agilent QC advances.
- AI and data scale rise through Genomics’ Mystra and MyHeritage’s WGS shift.
- Funding and advocacy stressed as ASHG leaders address research cuts.
References
- Wojcik, M. H., Larkin, K., Cipicchio, M., Doupnik, A., Zhao, C., Cech, C., ... & Lennon, N. (2025). Toward Same-Day Genome Sequencing in the Critical Care Setting. New England Journal of Medicine. doi:10.1056/NEJMc2512825