AIMC Topic: Mutation
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An informed deep learning model of the Omicron wave and the impact of vaccination.
Computers in biology and medicine
Jun 1, 2025
The Omicron (B.1.1.529) variant of SARS-CoV-2 emerged in November 2021 and has since evolved into multiple lineages. Understanding its transmission, vaccine efficacy, and potential for reinfection is crucial. This study examines the dynamics of Omicr...
Predicting Mutation-Disease Associations Through Protein Interactions Via Deep Learning.
IEEE journal of biomedical and health informatics
Jun 1, 2025
Disease is one of the primary factors affecting life activities, with complex etiologies often influenced by gene expression and mutation. Currently, wet lab experiments have analyzed the mechanisms of mutations, but these are usually limited by the ...
Predicting high confidence ctDNA somatic variants with ensemble machine learning models.
Scientific reports
May 26, 2025
Circulating tumour DNA (ctDNA) is a minimally invasive cancer biomarker that can be used to inform treatment of cancer patients. The utility of ctDNA as a cancer biomarker depends on the ability to accurately detect somatic variants associated with c...
Deep learning-guided design of dynamic proteins.
Science (New York, N.Y.)
May 22, 2025
Deep learning has advanced the design of static protein structures, but the controlled conformational changes that are hallmarks of natural signaling proteins have remained inaccessible to de novo design. Here, we describe a general deep learning-gui...
Prognostic value of circadian rhythm-associated genes in breast cancer.
World journal of surgical oncology
May 14, 2025
OBJECTIVE: Breast cancer (BC) remains the most prevalent malignancy among women. Clinical evidence indicates that genetic variations related to circadian rhythms, as well as the timing of therapeutic interventions, influence the response to radiation...
Modeling Enzyme Reaction and Mutation by Direct Machine Learning/Molecular Mechanics Simulations.
Journal of chemical theory and computation
May 13, 2025
Accurately modeling enzyme reactions through direct machine learning/molecular mechanics simulations remains challenging in describing the electrostatic coupling between the QM and MM subsystems. In this work, we proposed a reweighting ME (mechanic e...
EVOLVE: A Web Platform for AI-Based Protein Mutation Prediction and Evolutionary Phase Exploration.
Journal of chemical information and modeling
May 12, 2025
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...
Endometrial tumorigenesis involves epigenetic plasticity demarcating non-coding somatic mutations and 3D-genome alterations.
Genome biology
May 9, 2025
BACKGROUND: The incidence and mortality of endometrial cancer (EC) is on the rise. Eighty-five percent of ECs depend on estrogen receptor alpha (ERĪ±) 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
May 9, 2025
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...
The Role of Artificial Intelligence in Identifying Gene Variants and Improving Diagnosis.
Genes
May 7, 2025
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the gene, typically diagnosed during early childhood and characterized by significant phenotypic heterogeneity. Despite advancements in next-generation sequencin...
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