Genetics

Latest AI and machine learning research in genetics for healthcare professionals.

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Showing 1641-1660 of 14,214 articles

NSUN2 restrains renal fibrosis via m5C-stabilized GPX4 and ferroptosis inhibition.

BACKGROUND: Renal fibrosis (RFib) is a final common pathway in chronic kidney disease (CKD) progression. Although 5-methylcytosine (m5C) RNA modification can regulate mRNA fate, its role in RFib and redox-regulated cell death remains incompletely defined. METHODS: Public GEO cohorts were analyzed to identify dysregulated m5C regulators and enriched pathways in RFib. RFib was modeled in vivo using ...

Apr 21 2026 42025889

Systems pharmacology approaches to modeling immune training and tolerance.

Trained immunity is defined as the epigenetic and metabolic reprogramming of innate immune cells, conferring enhanced or diminished responsiveness to secondary challenges following initial stimulation. Immune tolerance represents the state of immunological unresponsiveness to self-antigens or innocuous foreign antigens. Systems pharmacology approaches have emerged as essential tools for understand...

Apr 21 2026 42127728
Decoding viral evolution through integrative bioinformatics: From genomes to global health.

Bioinformatics has transformed modern virology by linking genomic variation to epidemiology, protein structure, and public health action. This review ...

Apr 21 2026 42035616
Deep Learning and Experimental Validation of BRCA1-Associated Protein-1 Missense Variant Pathogenicity in Uveal Melanoma.

OBJECTIVE: To benchmark the pathogenicity predictions of AlphaMissense, a deep learning model, against high-throughput functional scores from saturati...

Apr 21 2026 42199731
Transcriptome and single-cell RNA sequencing data identify and validate candidate biomarkers associated with lysosomal and ferroptosis in osteoarthritis.

BACKGROUND: Osteoarthritis (OA) represents the most common degenerative joint disease, with emerging evidence linking it to lysosomal dysfunction and ...

Apr 21 2026 42025819
Exploring the toxicological impact of perfluorooctanoic acid and perfluorooctane sulfonate on glioblastoma through network toxicology, machine learning, and multi-dimensional bioinformatics analysis.

Exposure to perfluorooctanoic acid (PFOA) and perfluorooctane sulfonate (PFOS) has been associated with the development of various malignant tumors. H...

Apr 21 2026 42025812
Crosstalk between immune and programmed cell death and their application in colorectal cancer risk stratification.

Programmed cell death (PCD) and cellular immunity play pivotal roles in colorectal cancer (CRC) progression; understanding their crosstalk and identif...

Apr 21 2026 42124937
A comprehensive toolkit for analyzing cell-free DNA genomic sequencing data in liquid biopsy.

Liquid biopsy via plasma cell-free DNA (cfDNA) is transforming precision medicine by enabling non-invasive insights into the genomic and epigenomic la...

Apr 21 2026 42111187
Analysis and validation of diagnostic biomarkers and immune cell infiltration characteristics in chronic spontaneous urticaria and autophagy based on machine learning.

BACKGROUND: The exact molecular mechanisms governing a heightened risk of chronic spontaneous urticaria (CSU) associated with autophagy remain largely...

Apr 21 2026 42058160
Early prediction of gestational diabetes mellitus with clinical characteristics, cell-free DNA and genetic variants.

BACKGROUND: Gestational diabetes mellitus (GDM) remains a prevalent and heterogeneous pregnancy complication with limited strategies for early identif...

Apr 21 2026 42015270
Generalizable deep-learning-based mRNA-protein interaction prediction strongly depends on protein diversity.

BACKGROUND: Proteins regulate diverse biological processes through interactions with other molecules, including RNAs. RNA-binding proteins (RBPs) are ...

Apr 21 2026 42015301
Single-cell co-mapping reveals relationship between chromatin state and gene expression in early zebrafish development.

Establishing a cell type-specific chromatin landscape is crucial for the maintenance of cell identity during embryonic development. However, our knowl...

Apr 21 2026 42011025
Associations Between Perceived Stress and Sperm DNA Methylation Among Men Attending a Fertility Center.

BACKGROUND: Stress has been negatively associated with reproductive outcomes, including poor semen quality in men; however, the molecular mechanisms u...

Apr 21 2026 42011157
Single-Cell Profiling Identifies CLEC5A+ Macrophages as Key Drivers of Thoracic Aortic Aneurysm Via CCL5-Mediated M1 Polarization.

BACKGROUND: Thoracic aortic aneurysm (TAA) is a life-threatening disease with limited therapeutic options, largely due to an incomplete understanding ...

Apr 21 2026 42011731
Analytical validation of a highly accurate and reliable next-generation sequencing-based urine assay.

Urinary tract infections (UTIs) are diagnosed based on symptoms and confirmed by urine culture, despite its limitations in sensitivity. False-negative...

Apr 21 2026 42012213
Beta cell microRNAs function as molecular hubs of type 1 diabetes pathogenesis and as biomarkers of diabetes risk.

AIMS/HYPOTHESIS: Clinically actionable biomarkers that accurately reflect the health status of the beta cell are needed to improve risk stratification...

Apr 21 2026 42012684
Genetic algorithm-guided design of garlic-derived ligands targeting the TEN domain of telomerase reverse transcriptase with machine learning-based activity classification.

Human telomerase reverse transcriptase (hTERT) plays a key role in cancer cell immortalization and represents an important therapeutic target for anti...

Apr 21 2026 42013033
Isolated Nausea and Pretibial Rash in a Returning Traveler: Forme Fruste of Leptospirosis.

Leptospirosis is difficult to diagnose because of protean nonspecific clinical manifestations and the lack of rapid, actionable laboratory testing. A ...

Apr 21 2026 42013831
A framework for the exploration of subcellular compartmentalization of RNA-binding proteins.

The ability of RNA-binding proteins to form complexes with other biomolecules underpins a broad range of structural properties and functions. Understa...

Apr 21 2026 42014727
A multi-modal dataset for insect biodiversity with imagery and DNA at the trap and individual level.

Insects comprise millions of species, many experiencing severe population declines under environmental and habitat changes. High-throughput approaches...

Apr 21 2026 42014735
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