AIMC Topic: Mutation
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Deep learning analyses of splicing variants identify the link of PCP4 with amyotrophic lateral sclerosis.
Brain : a journal of neurology
Jul 7, 2025
Amyotrophic lateral sclerosis (ALS) is a severe motor neuron disease, with most sporadic cases lacking clear genetic causes. Abnormal pre-mRNA splicing is a fundamental mechanism in neurodegenerative diseases. For example, TAR DNA-binding protein 43 ...
Leveraging Whole-Exome Sequencing and Mutational Signatures to Detect Homologous Recombination Deficiency in Cancer.
Cancer research
Jul 2, 2025
Homologous recombination is a high-fidelity DNA repair mechanism essential for maintaining genome stability. Impairment of this pathway, often due to BRCA1 or BRCA2 inactivation, leads to homologous recombination deficiency (HRD), forcing cells to re...
HRProfiler Detects Homologous Recombination Deficiency in Breast and Ovarian Cancers Using Whole-Genome and Whole-Exome Sequencing Data.
Cancer research
Jul 2, 2025
UNLABELLED: Breast and ovarian cancers harboring homologous recombination deficiency (HRD) are sensitive to PARP inhibitors and platinum chemotherapy. Conventionally, detecting HRD involves screening for defects in BRCA1, BRCA2, and other relevant ge...
Illuminating the Noncoding Genome in Cancer Using Artificial Intelligence.
Cancer research
Jul 2, 2025
Understanding the vast noncoding cancer genome requires cutting-edge, high-resolution, and accessible strategies. Artificial intelligence is revolutionizing cancer research, enabling advanced models to analyze genome regulation. This review examines ...
AI-HOPE: an AI-driven conversational agent for enhanced clinical and genomic data integration in precision medicine research.
Bioinformatics (Oxford, England)
Jul 1, 2025
MOTIVATION: The growing complexity of clinical cancer research has fueled a surge in demand for automated bioinformatics tools capable of integrating clinical and genomic data to accelerate discovery efforts.
Development and validation of a machine learning prognostic model based on an epigenomic signature in patients with pancreatic ductal adenocarcinoma.
International journal of medical informatics
Jul 1, 2025
BACKGROUND: In Pancreatic Ductal Adenocarcinoma (PDAC), current prognostic scores are unable to fully capture the biological heterogeneity of the disease. While some approaches investigating the role of multi-omics in PDAC are emerging, the analysis ...
Investigating the Nature of PRM:SH3 Interactions Using Artificial Intelligence and Molecular Dynamics.
Journal of chemical information and modeling
Jun 9, 2025
Understanding the binding interactions within protein-peptide complexes is crucial for elucidating key physicochemical phenomena in biological systems. Among the outcomes of these interactions, biomolecular condensates have recently emerged as vital ...
Learning to utilize internal protein 3D nanoenvironment descriptors in predicting CRISPR-Cas9 off-target activity.
NAR genomics and bioinformatics
Jun 1, 2025
Despite advances in determining the factors influencing cleavage activity of a CRISPR-Cas9 single guide RNA (sgRNA) at an (off-)target DNA sequence, a comprehensive assessment of pertinent physico-chemical/structural descriptors is missing. In partic...
Multidimensional computational strategies enhance the thermostability of alpha-galactosidase.
International journal of biological macromolecules
Jun 1, 2025
Alpha-Galactosidase has significant industrial application value in food processing, animal nutrition and medical applications. Microbial-derived α-galactosidases predominate industrial implementation due to high productivity, yet their inherent ther...
Artificial intelligence in predicting EGFR mutations from whole slide images in lung Cancer: A systematic review and Meta-Analysis.
Lung cancer (Amsterdam, Netherlands)
Jun 1, 2025
BACKGROUND: Epidermal growth factor receptor (EGFR) mutations play a pivotal role in guiding targeted therapy for lung cancer, making their accurate detection essential for personalized treatment. Recently, artificial intelligence (AI) has emerged as...
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