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Mutation

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Social network analysis of cell networks improves deep learning for prediction of molecular pathways and key mutations in colorectal cancer.

Medical image analysis
Colorectal cancer (CRC) is a primary global health concern, and identifying the molecular pathways, genetic subtypes, and mutations associated with CRC is crucial for precision medicine. However, traditional measurement techniques such as gene sequen...

Refining mutanome-based individualised immunotherapy of melanoma using artificial intelligence.

European journal of medical research
Using the particular nature of melanoma mutanomes to develop medicines that activate the immune system against specific mutations is a game changer in immunotherapy individualisation. It offers a viable solution to the recent rise in resistance to ac...

T6496 targeting EGFR mediated by T790M or C797S mutant: machine learning, virtual screening and bioactivity evaluation study.

Journal of biomolecular structure & dynamics
Acquired resistance to EGFR is a major impediment in lung cancer treatment, highlighting the urgent need to discover novel compounds to overcome EGFR drug resistance. In this study, we utilized in silico methods and bioactivity evaluation for drug di...

Integration of persistent Laplacian and pre-trained transformer for protein solubility changes upon mutation.

Computers in biology and medicine
Protein mutations can significantly influence protein solubility, which results in altered protein functions and leads to various diseases. Despite tremendous effort, machine learning prediction of protein solubility changes upon mutation remains a c...

ProSTAGE: Predicting Effects of Mutations on Protein Stability by Using Protein Embeddings and Graph Convolutional Networks.

Journal of chemical information and modeling
Protein thermodynamic stability is essential to clarify the relationships among structure, function, and interaction. Therefore, developing a faster and more accurate method to predict the impact of the mutations on protein stability is helpful for p...

A deep learning model integrating multisequence MRI to predict EGFR mutation subtype in brain metastases from non-small cell lung cancer.

European radiology experimental
BACKGROUND: To establish a predictive model based on multisequence magnetic resonance imaging (MRI) using deep learning to identify wild-type (WT) epidermal growth factor receptor (EGFR), EGFR exon 19 deletion (19Del), and EGFR exon 21-point mutation...

Microsatellite Instability, Mismatch Repair, and Tumor Mutation Burden in Lung Cancer.

Surgical pathology clinics
Since US Food and Drug Administration approval of programmed death ligand 1 (PD-L1) as the first companion diagnostic for immune checkpoint inhibitors (ICIs) in non-small cell lung cancer, many patients have experienced increased overall survival. To...

Computational approaches for identifying disease-causing mutations in proteins.

Advances in protein chemistry and structural biology
Advancements in genome sequencing have expanded the scope of investigating mutations in proteins across different diseases. Amino acid mutations in a protein alter its structure, stability and function and some of them lead to diseases. Identificatio...

Anti-mutated citrullinated vimentin antibodies are increased in IPF patients.

Respiratory medicine and research
INTRO: An increased prevalence of serum anti-MCV antibody is observed in the serum of patients with idiopathic pulmonary fibrosis (IPF) but the clinical relevance of these antibodies is unknown.

Identification of IDH and TERTp mutations using dynamic susceptibility contrast MRI with deep learning in 162 gliomas.

European journal of radiology
PURPOSE: Isocitrate dehydrogenase (IDH) and telomerase reverse transcriptase gene promoter (TERTp) mutations play crucial roles in glioma biology. Such genetic information is typically obtained invasively from excised tumor tissue; however, these mut...