Genetics

Minimally invasive circulating MicroRNA signatures for breast cancer detection and neoadjuvant therapy response prediction in a multicenter MENA cohort.

BACKGROUND: Early detection and treatment stratification of breast cancer remain major clinical challenges, particularly in the Middle East and North Africa (MENA) region, where population-specific circulating biomarkers are poorly defined. Circulating microRNAs (miRNAs) represent promising minimally invasive biomarkers; however, comprehensive multicenter studies in diverse MENA populations with l...

FABIAN-variant 2026: improved prediction of the effects of DNA variants on transcription factor binding.

Variants in promoters and enhancers can alter the binding of transcription factors (TFs), but their functional assessment remains difficult. FABIAN-variant is a web application that predicts the effects of DNA variants on TF binding by comparing position weight matrix (PWM) and transcription factor flexible model (TFFM) scores between reference and variant alleles. Here, we present FABIAN-variant ...

Using machine learning to discriminate non-classical 21-hydroxylase deficiency from polycystic ovary syndrome: an external validation study.

INTRODUCTION: Nonclassical 21-hydroxylase deficiency (NC21OHD) is a rare autosomal recessive disorder that is frequently misdiagnosed as polycystic ov...

Bioactive environments to combat antimicrobial resistance: artificial intelligence and model-driven microbial biocontrol for living materials.

Antimicrobial resistance (AMR) continues to outpace development of new therapeutics. Many interventions focus on treating infection after it occurs, b...

Evolution of CTCF binding sites in the human genome.

The CCCTC-binding factor (CTCF) is a master regulator of topologically associating domains (TADs), which shape 3D genome architecture and gene regulat...

Cracking the code of heatstroke: new insights into diagnosis and pathological mechanisms.

As global temperatures continue to rise, the incidence and mortality rates of heatstroke (HS) have significantly increased. However, the current foren...

Single-cell and Spatial Transcriptomic Profiling Reveal that LAPTM5-mediated Ferroptosis in Macrophages Induces Fibroblast Dysfunction and Amplifies Periodontal Inflammation.

Periodontitis represents a persistent inflammatory condition marked by gradual damage to the gingival connective tissues and alveolar bone. Programmed...

Targeting the Gut-Heart Axis in Atherosclerosis: Microbial Metabolites, Molecular Mechanisms, and Precision Therapeutics.

Despite advances in lipid-lowering and anti-inflammatory medications, atherosclerotic cardiovascular disease (ASCVD) continues to be the leading cause...

Electrical discrimination of lysine methylation states at the single-molecule level.

Lysine methylation is an important epigenetic modification that regulates chromatin structure and gene expression. However, it is still difficult to d...

Mitochondrial dysfunction in peri-implantitis: bioinformatics and machine learning analysis with in vivo experiment.

This study aimed to identify mitochondria-related hub genes in peri-implantitis and to detect their expression in a Sprague-Dawley (SD) rat model. Hum...

Cross-Modal Feature Adapter for Few-Shot Human Activity Recognition.

Recent years have witnessed outstanding success of deep learning in sensor-based human activity recognition (HAR), spanning a wide range of real-world...

scVAEAT: An Integrative Attention-Augmented Variational Autoencoder for Predicting Single-Cell Perturbation Responses.

Understanding how individual cells respond to genetic or environmental perturbations is crucial for deciphering disease mechanisms and advancing preci...

A deep learning model captures position-specific preferences of plant regulatory sequences and suggests genes under complex regulation.

Deep neural networks can be trained to predict gene expression directly from genomic sequence, thereby implicitly learning regulatory sequence pattern...

Integrative transcriptomics, machine learning, and molecular docking derive a DAM-like macrophage signature for risk stratification and therapeutic nomination in glioblastoma.

Glioblastoma presents a significant challenge for drug development due to its complex immunosuppressive microenvironment. Identifying candidate therap...

Hidden pathways of antimicrobial resistance: A review of environmental metagenomics and exposure risks in low-resource settings.

Antimicrobial resistance (AMR) is increasingly recognised as a One Health challenge in which environmental reservoirs play an important role in the pe...

Spatial transcriptome and single-cell reveal the role of sorbitol metabolism in hepatocellular carcinoma progression and tumor microenvironment.

BACKGROUND: Metabolic reprogramming represents a hallmark feature of hepatocellular carcinoma (HCC). As a crucial branch of the polyol pathway, the bi...

AI/ML-Enabled Multi-Omics Integration of Host Genetics, Immunity, and the Gut Microbiome in Crohn's Disease: From Diagnosis to Theranostics.

Crohn's disease is a long-term inflammatory disorder arising from the interaction of genetic risk factors, immune system dysfunction, and alterations ...

Bisphenol a exposure induces low back pain associated with intervertebral disc degeneration via BIRC3-mediated nucleus pulposus cell senescence.

OBJECTIVE: This study aimed to assess the correlation of bisphenol A (BPA) exposure with low back pain (LBP) and determine if the underlying molecular...

Geneticization studies as a theoretical field: an uneven history and conceptual reconstruction.

Geneticization is a process of expanding genetics to define, predict, and possibly intervene in human conditions. Regardless of how and to what extent...

Computational Toxicology Prioritization of CYP3A4 and DPP7 as Candidate Triclosan-Relevant Molecular Targets in Ulcerative Colitis.

Triclosan (TCS), a synthetic broad-spectrum antimicrobial classified as a novel persistent organic pollutant, is detected in over 75% of human urine s...