Genetics

Seeing is making: AI visualisation and genomic prediction.

The integration of artificial intelligence (AI) into genomics is reshaping not only how biological data are analysed, but how genomic knowledge is produced and operationalised in clinical practice. Earlier computational approaches relied on alphanumeric outputs-risk scores, statistical associations and textual reports-that required interpretive reasoning to translate data into clinical meaning. By...

Development, validation, and user-centric evaluation of an interpretable machine learning decision support tool for the preoperative prediction of mild bleeding disorders (MBD-Check): a prospective diagnostic prediction study.

BACKGROUND: Mild bleeding disorders are the most common inherited bleeding disorders, often leading to perioperative haemorrhages. Preoperative screening for mild bleeding disorders remains challenging due to the limitations of existing screening tools, resulting in a substantial proportion of patients being referred for preoperative investigations. The aim of this study was to develop, externally...

Patient-specific modeling identifies metabolic interventions for reversing glucose use reprogramming in alcohol-associated hepatitis.

Alcoholic hepatitis (AH) is an acute form of alcohol-associated liver disease with very few treatment options. Recent studies highlighted liver metabo...

UniPTMs: a unified multi-type PTM site prediction model via master-slave architecture-based multi-stage fusion strategy and hierarchical contrastive loss.

BACKGROUND: As a core mechanism of epigenetic regulation in eukaryotes, protein post-translational modifications (PTMs) require precise prediction to ...

Tissueformer: extending single-cell foundation models to predict population-level phenotypes.

BACKGROUND: Single-cell RNA sequencing technologies have enabled unprecedented insights into gene expression and opened new pathways for diagnostics a...

CT-based deep learning radiogenomics for predicting key glioma genotypes (IDH, ATRX, EGFR, TP53).

PURPOSE: Molecular subtyping guides diagnosis and targeted therapy for gliomas. Although MRI-the current imaging standard-can be time-consuming and is...

Multi-omic biomarkers of neoadjuvant treatment response in rectal cancer: A narrative review.

BACKGROUND: Neoadjuvant treatment response in rectal cancer is highly heterogeneous, complicating patient selection for organ-preservation strategies....

Gsformer: a dual-architecture deep learning framework with CNN-self-attention and sparse-attention for genomic selection.

BACKGROUND: Genomic selection (GS) has revolutionized modern breeding by utilizing genome-wide single nucleotide polymorphisms (SNPs). While tradition...

THC-net: an attention-based deep learning model for chromatin compartment prediction from histone modifications.

BACKGROUND: The three-dimensional architecture of the genome plays a central role in fundamental biological processes. Chromatin compartmentalization ...

Interpretable machine learning for cattle breed classification and SNP prioritization.

BACKGROUND: The conservation of endangered cattle breeds is an important priority for maintaining biodiversity and keeping unique genetic resources. T...

EXPRESS: Transcriptome profiling and experimental validation identify FOS, RAC2, and TYROBP as potential biomarkers for Fu's subcutaneous needling in neuropathic pain treatment.

BACKGROUND: This study aimed to explore potential biomarkers and mechanisms underlying in the treatment of neuropathic pain(NP) with Fu's subcutaneous...

Epigenetic reprogramming of tissue-resident memory T cells in chronic inflammatory disorders and implications for targeted therapies.

BACKGROUND: Tissue-resident memory T (TRM) cells play a role in causing long-term tissue injury in chronic inflammatory diseases via pathological epig...

Extracellular Vesicles in Exhaled Breath Condensate as Emerging Biomarkers in Lung Cancer.

Exhaled breath condensate (EBC) has emerged as a noninvasive liquid biopsy medium that captures aerosolized material from the respiratory tract and ma...

Epigenetic and genetic insights for tailored therapeutic strategies in multiple sclerosis.

Multiple sclerosis (MS) is a complex neurological disorder with inflammation, demyelination, and neurodegeneration in the CNS. Disease-modifying thera...

MeDiCNet: Integrating Multi-scale Dynamic Convolution and Enhanced Position-Aware Transformer for DNA Methylation Site Prediction.

DNA methylation is a covalent modification of cytosine and adenine bases that regulates gene expression and underlies diverse biological processes and...

Single-cell sequencing in systemic lupus erythematosus.

BackgroundSystemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by heterogeneous clinical manifestations and multi-organ in...

GMC-Bind: A Multimodal Framework for RNA-Protein Binding Site Prediction with Bidirectional Cross-Attentional Fusion.

Accurate identification of RNA-protein binding sites is crucial for understanding gene regulation and disease mechanisms. However, existing deep learn...

Cross-species integration of single-cell data reveals conserved pathology-associated cell populations across animal models and human samples.

Single-cell RNA sequencing (scRNA-seq) enables high-resolution profiling of cellular heterogeneity, but integrating data across species remains challe...

Genetic architecture of white matter microstructure captured by unsupervised deep representation learning of fractional anisotropy maps.

Fractional anisotropy (FA) from diffusion MRI is a widely used marker of white matter (WM) integrity, but conventional FA-based genetic studies typica...

An integrated machine learning and mendelian randomization approach identifies SERPING1 as a prognostic biomarker associated with CD8 + T-cell infiltration in DLBCL.

BACKGROUND: SERPING1, which encodes the C1 inhibitor (C1-INH) of the complement system, and plays a key regulator in regulating inflammatory responses...