From Blueprint to Biological Function: The Power of Proteogenomics

Proteogenomics is the integrated analysis of genomic and proteomic data that reveals how genetic variation translates into protein function—and ultimately, disease mechanisms and treatment response. While genomics maps the blueprint of our biology, proteomics provides insight into the functional state of biology. Combining these layers gives researchers a dynamic, functional lens into biology that goes beyond what DNA alone can tell.

This approach is essential for precision medicine because:

• Drugs act mostly on proteins, not DNA. By profiling proteins directly, proteogenomics uncovers new therapeutic targets and reveals how drugs truly work in the body. 
• Proteins are dynamic—they reflect current health states and changes over time, providing real-time insight into disease progression and when interventions are needed. 
• Integrated genomic-proteomic datasets empower better precision medicine, enabling tailored treatments based on individual molecular profiles rather than just genetic risk. 

The UK Biobank Pharma Proteomics Project (UKB-PPP) exemplifies this power in action. By measuring nearly 3,000 proteins using the Olink Explore 3072 in over 54,000 participants, researchers have already uncovered more than 14,000 genetic–protein associations, most of which were previously unknown. Now scaling to analyze up to 5,400 proteins across 600,000 samples using the latest Olink Explore HT, the project aims to reveal how protein levels change over mid-to-late life, identify disease mechanisms, and accelerate biomarker and drug target discovery.

As Sir Rory Collins, UK Biobank’s Chief Executive, puts it:

“We’ve moved from excitement around genetics to excitement around proteins.”

By bridging the gap between genetic potential and biological action, proteogenomics is powering a new era of discovery—one where prevention, diagnosis, and treatment become finer-tuned, more predictive, and truly personalized.

The Olink Proximity Extension Assay (PEA), through the high-throughput Olink Explore and Olink Reveal platforms, is redefining what’s possible in proteogenomics. 

With an NGS-based readout, comprehensively curated protein libraries, and highly specific and robust assay performance, a streamlined and automated workflow, Olink technology helps enable scalable and reliable protein measurement across large and diverse cohorts. These capabilities directly overcome long-standing challenges in the field—such as poor specificity in multiplexing assays, limited throughput, and complex workflows—that once restricted the scope of proteogenomic research. By bridging genomics and proteomics at the population scale, Olink technology empowers researchers to accelerate discovery in precision medicine. 

The significant impact of proteogenomics is already clear: 

The UKB-PPP pilot has already delivered transformative biological insights. By profiling plasma from > 54,000 UK Biobank participants with the Olink Explore 3072 platform, the project measured ~3,000 proteins and uncovered 14,287 genetic–protein associations, ~85 % of them previously unknown.

This rich proteomics dataset also enabled the development of proteomic risk scores that outperform or complement genomic and clinical predictors, advancing disease stratification, early detection, and biological understanding.

Because it is openly available to UK Biobank–approved researchers, UKB-PPP serves as a reference proteomic atlas—unmatched in scale and depth—providing integrated protein, genotype, and phenotype data. Using Olink Explore HT enables methodological comparability with large public proteogenomics datasets (e.g., UK Biobank) generated using the same Olink PEA technology. 

Unlock true scale in proteogenomics: analyze 5,400+ proteins from just 2 µL of sample, with 99.5% specificity, a 10-log dynamic range, and the power to process 2,000+ samples per week through an automated NGS workflow. Olink Explore HT offers broad and deep proteome coverage and high throughput—ideal for large-scale cohort and population studies, including the UK Biobank Pharma Proteomics Project and Regeneron Genetics Center’s large-scale proteomics investigation involving nearly 200,000 patient samples from the Geisinger Health Study.

Proteogenomics made accessible: Olink Reveal profiles ~1,000 carefully curated proteins, with an emphasis on immune and inflammation pathways, 96% immune coverage, and over 700 proteins with known cis pQTLs. Its library-prep kit integrates smoothly into existing NGS workflows—with just 2.5 hours hands-on time, no protein-research-specific equipment, and an affordable price.

Together, Olink Explore and Olink Reveal enable flexible proteogenomic workflows—whether you're diving into population-scale discovery or just beginning your multi-omics journey.

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