Machine learning algorithm brings long-read sequencing to the clinic
Peer-Reviewed Publication
Updates every hour. Last Updated: 8-Jul-2025 20:11 ET (9-Jul-2025 00:11 GMT/UTC)
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.
Chondrosarcoma (CHS) is a rare and aggressive form of bone cancer characterized by its resistance to conventional therapies. The long non-coding RNA taurine up-regulated gene 1 (TUG1) has been reported to be implicated in various cancers; however, its role in CHS remains poorly understood.
Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer worldwide. Given its rising global incidence, poor prognosis, high recurrence, and metastatic potential, there is an urgent need to investigate the underlying mechanisms driving tumorigenesis and progression to develop novel treatment strategies.
NAD(H) and NADP(H) are important electron carriers in cellular metabolism that also act as essential cofactors for a range of enzymes involved in various biological processes. Nicotinamide adenine dinucleotide (NAD+) kinase (NADK), which catalyzes the phosphorylation of NAD+ to NADP+, is a key regulator of cellular NAD+/NADP+ homeostasis.
A new study in iScience integrated mathematical modeling with advanced imaging to discover that the physical shape of the fruit fly egg chamber, combined with chemical signals, significantly influences how cells move. Cell migration is critical in wound healing, immune responses, and cancer metastasis, so the work has potential to advance a range of medical treatments. To the authors’ knowledge, this is the first study that actively considers the role of both chemical and structural signals in cell migration.
Whether designing new proteins or mapping DNA structure, these scientists aim to shed light on these fundamental questions through large-scale data collection, mathematical modeling, and quantitative analysis.
The Institute for Bioengineering of Catalonia (IBEC) is participating in the international SOLFEGE project, which aims to explore how different cell types coordinate with each other through soluble factors in the tumour microenvironment. This project has been made possible thanks to funding from the Human Frontier Science Program. SOLFEGE is a consortium led by the German Cancer Research Center (DKFZ), with IBEC and the Duke University, as partners.