AIMC Topic: Mutation

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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...

Rapid intraoperative multi-molecular diagnosis of glioma with ultrasound radio frequency signals and deep learning.

EBioMedicine
BACKGROUND: Molecular diagnosis is crucial for biomarker-assisted glioma resection and management. However, some limitations of current molecular diagnostic techniques prevent their widespread use intraoperatively. With the unique advantages of ultra...

MEnTaT: A machine-learning approach for the identification of mutations to increase protein stability.

Proceedings of the National Academy of Sciences of the United States of America
Enhancing protein thermal stability is important for biomedical and industrial applications as well as in the research laboratory. Here, we describe a simple machine-learning method which identifies amino acid substitutions that contribute to thermal...

Geometric Graph Learning to Predict Changes in Binding Free Energy and Protein Thermodynamic Stability upon Mutation.

The journal of physical chemistry letters
Accurate prediction of binding free energy changes upon mutations is vital for optimizing drugs, designing proteins, understanding genetic diseases, and cost-effective virtual screening. While machine learning methods show promise in this domain, ach...