Roche presented major updates on its innovative sequencing by expansion (SBX) technology at the American Society of Human Genetics (ASHG) 2025 Annual Meeting in Boston, USA recently.
Following its unveiling earlier this year, SBX is already being recognised by early evaluators in the sequencing community for its combination of speed, flexibility, and longer reads, which significantly expands research possibilities.
“These advances reflect the strong momentum behind our innovative sequencing technology and its potential to transform genomic research and clinical applications,” said Matt Sause, CEO of Roche Diagnostics. “By combining high throughput, speed and longer read lengths, the SBX technology has the potential to enable research and applications that were previously not feasible. Our collaborations with Broad Institute, the Wellcome Sanger Institute, and others, demonstrate the immense potential of the SBX technology to tackle some of biology’s biggest challenges.”
The impact of the SBX technology was recognised when Broad Clinical Labs broke the Guinness World Record for the fastest DNA sequencing technique to date, using a human genome processed from a DNA sample to a final variant call file (VCF) in less than four hours. This milestone, achieved in collaboration with Roche Sequencing Solutions and Boston Children’s Hospital, surpasses the previous benchmark of five hours and two minutes.
“Breaking the Guinness World Record is a remarkable achievement,” said Mark Kokoris, inventor of the SBX chemistry and Head of SBX Technology at Roche. “The true impact lies in what this speed and accuracy mean for the scientific community and for deciphering complex diseases like cancer and neurodegenerative conditions.”
At ASHG 2025, Roche also announced a new collaboration with the Wellcome Sanger Institute, marking the start of a multi-project evaluation of SBX’s capabilities across a range of research applications. The Wellcome Sanger Institute is evaluating potential benefits from longer reads and very high throughput from the SBX technology for instance in Bulk RNA sequencing to explore previously undetectable features such as certain spliced Isoforms.
The Wellcome Sanger Institute partnership adds to existing collaborations that includes Hartwig Medical Foundation, Genentech, The University of Tokyo and others, as well as the Broad Institute where Roche has previously announced a strategic collaboration to develop and pilot groundbreaking research applications.
Roche has also made significant progress in methylation mapping – the process of identifying and analysing chemical modifications called methyl groups that are added to DNA. These modifications act like switches or dimmers, controlling whether genes are turned on, off, or somewhere in between. The research workflow combines SBX-Duplex, a methodology in which both strands of the target DNA are linked in a single read, with a high-fidelity methylation mapping method, TET-assisted pyridine borane sequencing (TAPS), a technology in development by Watchmaker Genomics. This high efficiency intra-molecular consensus workflow can have significant advantages in research applications, including liquid biopsy-based cancer detection and identification of novel epigenetic biomarkers.
At the University of Tokyo, researchers working in collaboration with Roche leveraged the speed and workflow adaptability of SBX in spatial sequencing analyses of banked lung cancer tissue with about 15 billion reads in just one hour. This approach allowed them to rapidly and accurately map gene expression within tissue samples at high resolution, providing critical insights into the dynamics of cells within a tumour microenvironment.
Roche also demonstrated a target enrichment method using SBX-Simplex workflow that leverages Unique Molecular Identifiers (UMIs) to produce high throughput and high accuracy reads with very low inputs. This can potentially benefit Oncology research where high depth is typically required.
The above examples highlight SBX’s potential to support multiomics research at scale, by combining the power of rapid sequencing with the ability to analyse multiple layers of biological information. Such breakthroughs are redefining how researchers approach disease biology and interpret the interplay between genetics, transcriptional activity, and epigenomic changes.