AIMC Topic: Mutation

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Comprehensive Characterization of Somatic Mutation Timing Reveals the Evolutionary Trajectory of Lung Adenocarcinoma in Chinese Patients.

Cancer research
UNLABELLED: Lung adenocarcinoma (LUAD) is a heterogeneous disease with substantial genomic differences between individuals of Chinese and European ancestries. Deciphering the timing of driver mutations may lead to insights into tumor evolution that c...

SARS-CoV-2: lessons in virus mutation prediction and pandemic preparedness.

Current opinion in immunology
The COVID-19 pandemic has prompted an unprecedented global response. In particular, extraordinary efforts have been dedicated toward monitoring and predicting variant emergence due to its huge impact, particularly for vaccine escape. Broadly, we clas...

HawkDock version 2: an updated web server to predict and analyze the structures of protein-protein complexes.

Nucleic acids research
Protein-protein interactions (PPIs) are fundamental to cellular functions, yet predicting and analyzing their 3D structures remains a critical and computationally demanding challenge. To address this, the HawkDock web server was developed as an integ...

StructMAn 2.0 Web: a web server for structural annotation of protein sequences and mutations.

Nucleic acids research
StructMAn is a method for protein structural annotation. It describes each position of a protein sequence or specific variants in it in terms of their importance for the three-dimensional (3D) structure of the protein and its interactions with other ...

Deep learning analyses of splicing variants identify the link of PCP4 with amyotrophic lateral sclerosis.

Brain : a journal of neurology
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
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
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
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)
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
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 ...