Genetics

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

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Artificial Intelligence in Neuropathic Pain: From Mechanisms to Neuromodulation and Regenerative Strategies.

PURPOSE OF REVIEW: Neuropathic pain remains challenging due to its heterogeneous mechanisms and variable treatment response. This narrative review evaluates recent advances in artificial intelligence (AI) and machine learning (ML) for patient phenotyping, treatment selection, outcome prediction, neuromodulation, and regenerative therapies. RECENT FINDINGS: ML-based phenotyping integrates genomic, ...

Jun 12 2026 42277490

Identification of candidate sex hormone-associated genes and immune infiltration characteristics in osteoarthritis based on bioinformatics analysis and machine learning.

BACKGROUND: Sex hormones play critical roles in the pathogenesis and progression of osteoarthritis (OA), yet the hormone-related molecular networks remain poorly defined. This study aimed to identify candidate sex hormone-associated genes in OA and to explore their potential functional enrichment and immune-related characteristics using bioinformatics analysis. METHODS: OA gene expression data wer...

Jun 12 2026 42284285
Predicting TP53 Biomarkers from Whole Slide Images across Human Solid Tumors Using Weakly Supervised Learning.

Accurate molecular profiling from routine histopathology slides could transform clinical oncology. A Vision Transformer (ViT)-based model was develope...

Jun 11 2026 42276414
Construction and validation of a preimplantation kinship identification model using ultra-low-depth whole genome sequencing.

Errors during in vitro fertilization (IVF) workflows pose significant risks; yet, existing quality control measures remain insufficient. Herein, we de...

Jun 11 2026 42325582
AI-guided meta-analysis of non-invasive prenatal testing platforms for trisomy 21 screening: comparative evaluation of cffDNA and fetal cell-based approaches.

BACKGROUND: Trisomy 21 (Down syndrome) remains the most prevalent autosomal aneuploidy, necessitating accurate prenatal diagnosis. While cell-free fet...

Jun 11 2026 42277722
Deep learning-based prediction of gene expression from histopathology identifies NR5A1 as a candidate biomarker and druggable target in high-grade serous ovarian carcinoma.

BACKGROUND: High-grade serous ovarian cancer (HGSOC) is the most lethal ovarian cancer subtype, responsible for ~ 70% of ovarian cancer-related deaths...

Jun 11 2026 42277915
MutAIverse: an AI-powered, mechanism-backed platform for discovering novel DNA adducts and their precursor genotoxins.

Genotoxin exposure leads to DNA adduct formation, potentially causing mutations if unrepaired. Current DNA adductomics platforms or analytical workflo...

Jun 11 2026 42277963
Evaluation of DeepSeek-Generated Biochemistry Clinical Cases for Teaching Purpose.

To overcome limitations in traditional case-based teaching, this study developed an AI-driven workflow using DeepSeek to generate contemporary, interd...

Jun 11 2026 42281165
Negative frequency-dependent selection: a positive outlook with deep learning.

Balancing selection is a mode of natural selection that maintains genetic diversity through various mechanisms, including negative frequency-dependent...

Jun 11 2026 42272394
A Neural Network-Enabled, Enzymatic cfDNA Methylation Assay for Colorectal Cancer Early Detection.

Early detection of colorectal cancer (CRC) remains critical for reducing disease-specific mortality, yet current noninvasive screening approaches have...

Jun 11 2026 42274209
Functional Imaging in Hereditary Endocrine Neoplasms: Evolving Modalities and Clinical Implications.

Hereditary endocrine neoplastic syndromes require structured, lifelong surveillance owing to their multisystem involvement, variable penetrance, and h...

Jun 11 2026 42274298
Hierarchical Amplification-Interlinked CRISPR-Cas14a Luminescent Biosensor Coupled with Portable Photonic Crystal Biochip-Boosted Time-Delayed Signaling for the Diagnosis of Pediatric Mycoplasma pneumoniae Pneumonia.

Mycoplasma pneumoniae pneumonia (MPP) is a respiratory infection that readily propagates within pediatric populations, and thus, the development of a ...

Jun 11 2026 42274413
AI-Guided Patient-Derived Endothelial Modeling Identifies a Reversible Moyamoya-Specific miRNA Deficiency Corrected by Stem Cell-Extracellular Vesicles.

Moyamoya disease (MMD) is a progressive cerebrovascular disorder characterized by abnormal vascular remodeling and impaired angiogenesis. We profiled ...

Jun 11 2026 42274939
MoADL-TLSTM: Multiobjective Automated Deep Learning-Based Transformer-LSTM for Load Forecasting.

Accurate load forecasting serves as the critical factor for optimizing energy allocation and ensuring economic operation in cyber-physical power syste...

Jun 11 2026 42275344
IgG4-related disease has a specific intestinal microbiota signature.

BACKGROUND: While the intestinal microbiome has been implicated in Immunoglobulin-4 related disease (IgG4-RD), it remains poorly characterised. Theref...

Jun 11 2026 42276012
Identification of Novel Diagnostic Biomarkers and Host-Directed Drug Screening for Mycobacterium avium Infection: A Multi-Omics and Artificial Intelligence Study.

OBJECTIVE: The rising incidence of Mycobacterium avium (MAV) infection poses significant challenges due to diagnostic delays and refractory treatment....

Jun 11 2026 42276326
Benchmarking large language models for cell-free RNA diagnostic biomarker discovery.

Large language models can synthesize biomedical knowledge, parse vast amounts of data, and generate code, positioning them as promising tools for biom...

Jun 11 2026 42276999
T2Pdecoder enables protein-centric analyses from transcriptomic data.

Protein quantification is not as extensive as RNA quantification, especially for isocitrate dehydrogenase (IDH) mutant gliomas. Predicting protein abu...

Jun 11 2026 42277023
Transcriptomic analysis identifies novel ferroptosis-related biomarkers and therapeutic targets in pulmonary arterial hypertension.

BACKGROUND: Ferroptosis plays a significant role in pulmonary arterial hypertension (PAH), although its underlying mechanisms and key pathogenic genes...

Jun 11 2026 42267557
Exploring celecoxib polymorph landscape using AIMNet2 machine learning interatomic potential.

The crystal form a drug adopts can change everything from how it dissolves to whether it works in the clinic, yet predicting which polymorphs a flexib...

Jun 10 2026 42338904
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