Clinical Omics – News and Features

UK Biobank’s expansion of Olink proteomics from 50,000 to 500,000 participants marks a major step toward true population-scale multi-omics. Deputy Chief Scientist Dr. Adam Lewandowski discusses the challenges of releasing this high-dimensional data.

Researchers uncovered an overlooked layer of genetic variation: subtle sequence changes within short tandem repeats. Studying genomic data from over 3,000 people, they found these variations are common and enriched in genes tied to brain development.

Researchers mapped over 715 proteins in primary cilia, the antenna-like structures on most human cells. Using advanced imaging, they revealed 91 previously unknown proteins and linked a gene variant, CREB3, to ciliopathy-like symptoms.

A study offers new insights into the "antennae" - or primary cilia - that human cells use for signal processing. This atlas of human cilia may contribute to a better understanding of a range of genetic disorders.

Researchers have identified multiple causal biomarkers for metabolic dysfunction-associated steatotic liver disease (MASLD), using genetic tools and machine learning models.

Selumetinib can reduce the pain and size of tumors caused in adults by neurofibromatosis type 1, a rare genetic disease for which there is currently no effective pharmacological treatment.

Explore the clinical impact of accurate vitamin D measurement, how the cobas® Mass Spec solution enhances diagnostic precision and the broader role of clinical mass spectrometry in advancing personalized healthcare.

Researchers have developed a new machine learning algorithm, SAVANA, which can accurately identify cancer-specific structural variations and copy number aberrations in long-read DNA sequencing data, informing cancer diagnosis and interventions.

Discover how epiproteomics unlocks new biomarkers and drives breakthroughs in diagnostics and drug development.

Explore how proteomics, AI and microsampling are advancing biomarker discovery. Learn how these innovations are shaping the future of precision medicine.