AIMC Topic: Databases, Genetic

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CNVoyant a machine learning framework for accurate and explainable copy number variant classification.

Scientific reports
The precise classification of copy number variants (CNVs) presents a significant challenge in genomic medicine, primarily due to the complex nature of CNVs and their diverse impact on rare genetic diseases (RGDs). This complexity is compounded by the...

HELP: A computational framework for labelling and predicting human common and context-specific essential genes.

PLoS computational biology
Machine learning-based approaches are particularly suitable for identifying essential genes as they allow the generation of predictive models trained on features from multi-source data. Gene essentiality is neither binary nor static but determined by...

Discovery of Novel Biomarkers with Extended Non-Coding RNA Interactor Networks from Genetic and Protein Biomarkers.

International journal of molecular sciences
Curated online interaction databases and gene ontology tools have streamlined the analysis of highly complex gene/protein networks. However, understanding of disease pathogenesis has gradually shifted from a protein-based core to complex interactive ...

Employ machine learning to identify NAD+ metabolism-related diagnostic markers for ischemic stroke and develop a diagnostic model.

Experimental gerontology
Ischemic stroke (IS) is a severe condition regulated by complex molecular alterations. This study aimed to identify potential nicotinamide adenine dinucleotide (NAD+) metabolism-associated diagnostic markers of IS and explore their associations with ...

Construction of an artificial neural network diagnostic model and investigation of immune cell infiltration characteristics for idiopathic pulmonary fibrosis.

BMC pulmonary medicine
BACKGROUND: Idiopathic pulmonary fibrosis (IPF) is a severe lung condition, and finding better ways to diagnose and treat the disease is crucial for improving patient outcomes. Our study sought to develop an artificial neural network (ANN) model for ...

A natural language processing system for the efficient extraction of cell markers.

Scientific reports
Single-cell RNA sequencing (scRNA-seq) has emerged as a pivotal tool for exploring cellular landscapes across diverse species and tissues. Precise annotation of cell types is essential for understanding these landscapes, relying heavily on empirical ...

AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genes.

Human genomics
Single nucleotide variants (SNVs) can exert substantial and extremely variable impacts on various cellular functions, making accurate predictions of their consequences challenging, albeit crucial especially in clinical settings such as in oncology. L...