Close

Machine learning algorithm brings long-read sequencing to the clinic

SAVANA uses a machine learning algorithm to identify cancer-specific structural variations and copy number aberrations in long-read DNA sequencing data. The complex structure of cancer genomes means that standard analysis tools give false-positive results, leading to erroneous clinical interpretations of tumour biology. SAVANA significantly reduces such errors. SAVANA offers rapid and reliable genomic analysis to better analyse clinical samples, thereby informing cancer diagnosis and therapeutic interventions.

Unlocking precise composition analysis of nanomedicines

Current regulations for nanomedicines overlook the effects of the different forms of the same element, such as ions, nanoparticles, and aggregates. In a recent study, researchers developed a new analytical method combining an asymmetric flow field-flow fractionation system and mass spectrometry to separately quantify these forms. This technique allows for better quality control and safety evaluation of metal-based nanomedicines, promoting their development and clinical use, with applications also extending to food, cosmetics, and the environment.

Findings on the protein that forms loops in the human genome

Cohesin is a protein that forms a ring-shaped complex which wraps and alters the DNA molecule shape. It moves through the DNA and creates specific loops in the genetic material which determine the architecture of the genome and gene expression. Some mutations in the genes of the cohesion complex are responsible for rare diseases (cohesinopathies), such as the Cornelia de Lange syndrome (SCdL) or Roberts syndrome, which affect several organs and cause malformations during development.

Novel biomarker: Potential to predict and treat skin cancer metastasis

Researchers have identified C5aR1 as a novel biomarker for metastasis risk and poor prognosis in patients with cutaneous squamous cell carcinoma (cSCC), the most common type of metastatic skin cancer. The new study’s findings in The American Journal of Pathology, published by Elsevier, found that C5aR1 promotes the invasion of cSCC tumor cells. Its elevated presence suggests that C5aR1 might serve as a useful prognostic marker for metastatic disease and, potentially, a target for future therapies in advanced cSCC.