Science technology company Thermo Fisher Scientific has discovered more than 2,500 previously unreported genetic-protein associations during its PRECISE-SG100 study. The study was conducted in collaboration with Precision Health Research, Singapore (PRECISE) and Nanyang Technological University, Singapore.
By combining Thermo Fisher’s complementary proteomics technologies with PRECISE-SG100K’s large-scale health and genomic data, researchers uncovered new biological insights to better understand complex human disease and inform the identification of potential biomarkers and therapeutic targets.
The data, presented at the Human Proteome Organisation (HUPO) World Congress, are derived from analysis of the first 10,000 study participant samples and mark initial findings generated as part of the strategic collaboration announced in April. Under the agreement, the PRECISE-SG100K study integrates Thermo Fisher’s Olink Proximity Extension Assay (PEA) platforms with the high-resolution Orbitrap Astral mass spectrometry system and Seer’s Proteograph Product Suite, combining targeted protein measurement with discovery proteomics at population scale and creating a powerful framework to help translate large-scale biological data into insights on disease mechanisms and potential biomarkers.
“Every new connection between our genes, proteins and health and disease states adds another piece to the complex puzzle of human biology,” said Karen Nelson, chief scientific officer, Thermo Fisher Scientific. “Researchers no longer have to choose between depth and scale. Combining a deep discovery mass spectrometry-based approach and targeted technologies such as Olink with genomic and health data can reveal previously unseen biology and help build a stronger foundation for discovery, new biomarkers and potential therapeutic strategies.”
What data from the first 10,000 samples showed
John Chambers, PhD, chief scientific officer at PRECISE and Principal Investigator of the SG100K study, presented the findings during his plenary talk at HUPO. Analysing approximately 10,000 participant samples, researchers measured about 8,800 protein groups. Genetic association study identified over 4,200 proteins whose levels were linked to nearby genetic differences. Of these, more than 2,500 had not previously been reported across 12 reference studies used for comparisons, giving researchers thousands of additional leads to investigate.
“Our ability to connect additional protein biology insights to genetic variation and, ultimately, health-related traits gives us a new set of hypotheses to investigate as we work to understand disease biology in Singapore’s diverse Asian population and translate those insights more broadly,” Chambers said. He is also the Professor of Cardiovascular Epidemiology and Program Director for Population and Global Health at NTU Singapore’s Lee Kong Chian School of Medicine.
How Thermo Fisher technologies provide complementary views of the human proteome
The Orbitrap Astral mass spectrometry platform enables deep discovery by measuring thousands of proteins directly and at high throughput. Olink proximity extension assay (PEA) technology provides highly sensitive, targeted protein measurements that can extend and complement mass spectrometry-based discovery.
Used together, and integrated with genomic and health information, these technologies allow researchers to investigate biology through complementary approaches and build a more comprehensive evidence base than either approach can provide alone. This integrated approach also helps address a longstanding challenge in population-scale proteomics: achieving the analytical depth needed to uncover new biology while processing the large numbers of samples required to study variation across diverse populations. The findings demonstrate the value of combining Thermo Fisher’s complementary proteomics capabilities to create a more complete picture of biology. The approach demonstrates how population-scale proteomics can serve as foundational research infrastructure for precision medicine.
How PRECISE-SG100K is building a more diverse foundation for precision medicine
The SG100K study has recruited more than 100,000 participants from Singapore’s diverse Asian population and in collaboration with PRECISE has integrated genomic, proteomic, clinical and other health information to provide deeper insight into healthy states and disease biology. The initiative is designed to improve understanding of how genetics, environment and lifestyle influence disease risk and treatment response, while helping address the historic underrepresentation of diverse populations in large-scale biomedical and translational research.
