Diagnostic markers articles from across Nature Portfolio

Brain tumors are challenging to diagnose, with DNA-methylation profiling being key to their classification, but with AI-based classifiers requiring constant adjusting to newer technologies. A publicly available AI tool is now shown to classify tumors with high accuracy, independently of profiling platform, epigenome coverage or sequencing depth.

Predictive techniques in medical imaging offer transformative opportunities for early diagnosis and personalized care but raise complex ethical, legal, and economic challenges. This paper explores current advancements, regulatory implications, and risks such as overdiagnosis, alert fatigue, and information overload, emphasizing the urgent need for multidisciplinary frameworks to ensure responsible implementation and sustainable integration into healthcare systems.

Brain tumors are challenging to diagnose, with DNA-methylation profiling being key to their classification, but with AI-based classifiers requiring constant adjusting to newer technologies. A publicly available AI tool is now shown to classify tumors with high accuracy, independently of profiling platform, epigenome coverage or sequencing depth.

Growing older goes hand in hand with widespread epigenetic differences in the genome, a phenomenon that has propelled immense scientific and commercial interest in epigenetic clocks. Using epigenetic editing, Liesenfelder and colleagues begin bridging the gap between the correlation of epigenetic changes with age and the biological processes of aging.

We analyzed changes in performance tests, physical measures and blood biomarkers over 8 years in around 19,000 older adults in the USA and UK to quantify their pace of aging. Individuals with a slower pace of aging were protected from developing disease, disability and cognitive impairment, and lived longer than those with a faster pace of aging.

Greater genetic susceptibility to schizophrenia is associated with thinner retinal structures — the macula, as well as both the outer retina and the inner retina. Biological pathways associated with neuroinflammation, which play a part in schizophrenia, might be involved in retinal thinning mechanisms.