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Mutation

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Surgical and radiological outcomes of giant cell tumor of the bone: prognostic value of Campanacci grading and selective use of denosumab.

Journal of orthopaedics and traumatology : official journal of the Italian Society of Orthopaedics and Traumatology
BACKGROUND: Advancements in diagnostic and therapeutic modalities for giant cell tumors of bone (GCTB) have introduced molecular and radiological tools that refine clinical decision-making. H3.3 G34W immunohistochemical staining has become a routine ...

Endometrial tumorigenesis involves epigenetic plasticity demarcating non-coding somatic mutations and 3D-genome alterations.

Genome biology
BACKGROUND: The incidence and mortality of endometrial cancer (EC) is on the rise. Eighty-five percent of ECs depend on estrogen receptor alpha (ERα) for proliferation, but little is known about its transcriptional regulation in these tumors.

Using machine learning models to predict the impact of template mismatches on polymerase chain reaction assay performance.

Scientific reports
Molecular assays are critical tools for the diagnosis of infectious diseases. These assays have been extremely valuable during the COVID pandemic, used to guide both patient management and infection control strategies. Sustained transmission and unhi...

EVOLVE: A Web Platform for AI-Based Protein Mutation Prediction and Evolutionary Phase Exploration.

Journal of chemical information and modeling
While predicting structure-function relationships from sequence data is fundamental in biophysical chemistry, identifying prospective single-point and collective mutation sites in proteins can help us stay ahead in understanding their potential effec...

Semisupervised adaptive learning models for IDH1 mutation status prediction.

PloS one
The mutation status of isocitrate dehydrogenase1 (IDH1) in glioma is critical information for the diagnosis, treatment, and prognosis. Accurately determining such information from MRI data has emerged as a significant research challenge in recent yea...

Deep learning radiopathomics predicts targeted therapy sensitivity in EGFR-mutant lung adenocarcinoma.

Journal of translational medicine
BACKGROUND: Ttyrosine kinase inhibitors (TKIs) represent the standard first-line treatment for patients with epidermal growth factor receptor (EGFR)-mutant lung adenocarcinoma. However, not all patients with EGFR mutations respond to TKIs. This study...

Artificial intelligence networks for assessing the prognosis of gastrointestinal cancer to immunotherapy based on genetic mutation features: a systematic review and meta-analysis.

BMC gastroenterology
BACKGROUND AND AIM: Artificial intelligence (AI) networks offer significant potential for predicting immunotherapy outcomes in gastrointestinal cancers by analyzing genetic mutation profiles. Their application in prognosis remains underexplored. This...

AI designed, mutation resistant broad neutralizing antibodies against multiple SARS-CoV-2 strains.

Scientific reports
In this study, we developed a digital twin for SARS-CoV-2 by integrating diverse data and metadata with multiple data types and processing strategies, including machine learning, natural language processing, protein structural modeling, and protein s...

Deep learning model for predicting the RAS oncogene status in colorectal cancer liver metastases.

Journal of cancer research and therapeutics
BACKGROUND: To develop a deep learning radiomics (DLR) model based on contrast-enhanced computed tomography (CECT) to assess the rat sarcoma (RAS) oncogene status and predict targeted therapy response in colorectal cancer liver metastases (CRLM).

Machine learning in prediction of epidermal growth factor receptor status in non-small cell lung cancer brain metastases: a systematic review and meta-analysis.

BMC cancer
BACKGROUND: Epidermal growth factor receptor (EGFR) mutations are present in 10-60% of all non-small cell lung cancer (NSCLC) patients and are associated with dismal prognosis. Lung cancer brain metastases (LCBM) are a common complication of lung can...