Published in Nature Medicine, researchers analyzed plasma proteomic data from UK Biobank samples to assess whether sparse protein signatures could improve prediction incidence for common and rare diseases. They found that for 67 diseases—including multiple myeloma, non-Hodgkin lymphoma, pulmonary fibrosis, and celiac disease—protein-based models significantly outperformed traditional clinical models. The study highlights the potential of plasma proteomics to enable earlier diagnosis and targeted screening to enhance precision medicine.

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This publication in Cell Genomics outlines the design of the Infinium Methylation Screening Array (MSA) and illustrates how this newest innovation in array technology can be leveraged to make novel discoveries. The study established MSA as a highly accurate, scalable solution and revealed several interesting findings, one of which being that underappreciated 5-hydroxymethylcytosine plays a critical role in tissue identity, transcriptional regulation, and aging biomarkers.

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By compiling whole genome sequencing data from nearly 500K participants alongside phenotypic data, the UK Biobank is enabling researchers to unlock unprecedented insights into human health, disease, and genetic diversity. Researchers identified 1.5 billion variants using DRAGEN secondary analysis and have made these data available to researchers worldwide to accelerate drug discovery and advance precision medicine.

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