This joint effort will harness PacBio’s state-of-the-art HiFi sequencing technology to offer profound insights into genetic diversity, disease mechanisms and clinical diagnoses within Singapore’s multi-ethnic population.
PacBio, a leading developer of high-quality, highly accurate sequencing solutions, has announced that Precision Health Research, Singapore (PRECISE) has chosen the Revio HiFi sequencing system for its Long-Read Sequencing Flagship Project. This initiative aims to generate the largest long-read sequencing dataset in Southeast Asia, marking a significant advancement for precision medicine in Singapore.
As part of Singapore’s three-phase National Precision Medicine (NPM) programme, the current phase of the NPM aims to transform healthcare in Singapore and improve patient outcomes through new insights into the Asian genome. Hence, this collaboration will harness PacBio’s state-of-the-art HiFi sequencing technology to offer profound insights into genetic diversity, disease mechanisms, and clinical diagnoses within Singapore’s multi-ethnic population.
This partnership highlights the critical role of PacBio’s HiFi sequencing technology in advancing precision medicine. Beyond the capabilities of traditional short-read sequencing technologies, PacBio’s long-read sequencing provides comprehensive genomic coverage, enabling the detection of large structural variations and DNA methylation, providing a more complete picture of the genome. This multi-omics approach, combining whole genome sequencing (WGS), RNA full-length sequencing, fibre sequencing and methylation analysis, positions PacBio as an essential contributor to the success of this joint effort with PRECISE.
“I am delighted that PRECISE has selected our Revio system for their extensive, flagship long-read sequencing project in Singapore,” said Christian Henry, President and Chief Executive Officer of PacBio. “PRECISE chose PacBio HiFi technology for its capacity to deliver complete and accurate genomes. This project exemplifies Revio’s unique ability to provide differentiated solutions for large-scale, multi-thousand-sample, whole genome sequencing projects.
“Building diverse reference genomes like the pan-Asian genomes in the PacBio-PRECISE project will ensure inclusive, accurate and equitable health research by reflecting the genetic diversity of the global population.
“Reference genomes are sequences of DNA intended to serve as a representative examples of a species’ genetic makeup. Yet the current human reference genome is built primarily from samples of individuals with European ancestry. This lack of diversity means that genetic variants that are common in other populations might be underrepresented or missed entirely. As a result, diagnostics, treatments and precision medicine strategies may be less effective or even inaccurate for non-European populations.”
PacBio’s joint effort with PRECISE is set to elevate precision medicine in Singapore, leveraging highly-accurate long-read sequencing to drive scientific breakthroughs and enhance clinical outcomes. Through significant product contributions, investment in local expertise, and a comprehensive data platform, PacBio is dedicated to the success of this transformative initiative.
Key highlights of the partnership
Comprehensive long-read genomic data
PacBio will generate high-quality phased methylome and genomic information for a multi-thousand-sample whole genomes sequencing project, including:
- 60x HiFi depth for Pan-Asian reference genomes
- 20x HiFi depth for multi-omics analysis
- 30x HiFi depth for unresolved and research cases in cancer and rare diseases
Advanced sequencing infrastructure
PacBio will establish advanced sequencing and data analysis pipelines in Singapore, including a centralised library preparation facility and sequencing laboratory for high throughput production.
“Constructing accurate, complete genomes for all demographics relies on using the most advanced sequencing technology,” added Henry. “It wasn’t until 2022 that the final 8% of the current European reference genome was completed, due to the complexity of certain ‘dark’ regions of DNA that other sequencing technologies missed or misassembled. The decision to use PacBio’s Revio machine means that Singapore’s National Precision Medicine programme will be able to deliver highly accurate and comprehensive reference genomes first time – with no pieces missing.
“The collaboration will prove the value of creating more representative, high-quality genomic data, aligning with PacBio’s commitment to leveraging genomics to better human health. We hope it inspires other regions to explore the genetics of their population, paving the way for a future where precision medicine is truly inclusive and globally impactful.”
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