Genetics

Novel Alzheimer's disease-associated variants and genetic interactions identified from UK biobank whole-exome sequencing data using IBI-DT.

Alzheimer's disease (AD) is a highly heritable neurodegenerative disorder whose genetic architecture remains incompletely understood, particularly with respect to rare variants and higher-order interactions. We applied Individualized Bayesian Inference-Decision Tree (IBI-DT) to 790,000 whole-exome sequencing variants from 8,292 unrelated White British individuals in the UK Biobank, using genome-wi...

Near-perfect genome sequencing in medical genetics.

Medical genetics currently operates through a fragmented diagnostic cascade built around short-read sequencing technologies that carry well-documented blind spots, including regions of high sequence homology, tandem repeats and segmental duplications, as well as large or complex structural variants, invisible base modifications and a lack of variant phasing. We propose that long-read genome sequen...

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

High-throughput genome and exome sequencing have uncovered numerous intronic variants in disease genes, yet predicting their impact on pre-mRNA splici...

AI in variant analysis: fast track to genetic diagnoses.

While falling costs have expanded access to genomic sequencing, clinical utility is frequently hindered by the challenge of interpreting complex genet...

Identification and prognostic analysis of genes related to CTNNB1 mutations in hepatocellular carcinoma.

BACKGROUND: Mutations in CTNNB1 are recognized oncogenic drivers of hepatocellular carcinoma (HCC); however, the downstream effector molecules and the...

Associations of indoor bacterial, metabolomic, and other chemical exposures with allergic rhinitis in school-aged children.

BACKGROUND: The indoor environment has been implicated as a critical factor in the development of allergic diseases. However, the interplay among indo...

Integrated NEK7-inflammasome and platelet transcriptomic signature generates mechanistic hypotheses in heart failure.

BACKGROUND: The relationship between NEK7-NLRP3 inflammasome activation and elevated platelet activity in the progression of heart failure (HF) is not...

A multimodal ConvNeXt-Tiny deep learning model for simultaneous prediction of IDH mutation and Ki-67 expression in gliomas.

OBJECTIVE: To construct and validate a multi-task deep learning model based on ConvNeXt-Tiny for synchronous prediction of isocitrate dehydrogenase (I...

Integrated single-cell RNA sequencing and Bulk-RNA technologies reveal the immunological characteristics of lactylation related-genes in glioblastoma.

OBJECTIVE: Glioblastoma (GBM) is the most aggressive type of intracranial malignant tumor, known for its extremely poor prognosis. Lactylation, a newl...

Application value and challenges associated with plasma cell-free DNA metagenomic sequencing technology in the diagnosis of infections in patients with hematological disorders.

In patients with hematological disorders, the high risk of complex infections caused by immune dysfunction and intensive therapies poses a major chall...

SegJointGene: joint cell segmentation and spatial gene prioritization by information entropy guided convolutional neural networks.

MOTIVATION: Spatial sequencing technologies enable the single-cell-level study of molecular organization in tissues. Revealing such spatial patterns r...

π-HelixNovo2: Making Accurate Online De Novo Peptide Sequencing Available to All.

De novo peptide sequencing, the mainstream technique for identifying novel peptides, has recently seen remarkable improvements due to deep learning ap...

A biologically informed hierarchical feature engineering and learning framework for genetic disorder prediction.

Genetic disorder prediction from diverse clinical and hereditary sources is very difficult due to complex inheritance patterns, high interdependencies...

Benzo(a)pyrene aggregating lung inflammation via inducing IL1R1 expression in asthma: Insights from network toxicology, single-cell transcriptomics, and Mendelian randomization.

OBJECTIVE: Exposure to benzo(a)pyrene (BaP) negatively affects lung inflammation in patients with asthma. However, there is a lack of systematic resea...

AI-driven discovery of GPNMB CAR T cells as a multi-cancer therapy.

Chimeric antigen receptor (CAR) T cells have demonstrated curative potential in hematologic cancers and increasing efficacy in solid tumors and non-ma...

PDA-MutPred: Reliable prediction of binding affinity change upon mutation in protein-DNA complexes.

Mutations in protein-DNA complexes interfere with normal cell functions by causing structural changes, leading to the dissociation of complexes or alt...

Protocols for genomic epidemiology and source attribution of enteric bacteria causing diarrhoeal disease across Africa.

INTRODUCTION: Enteric bacterial pathogens are a major cause of diarrhoeal disease in low-income and middle-income countries, with complex transmission...

IL4Rα blockade inhibits proliferation of malignant lymphocytes and the immunosuppressive tumor microenvironment of mycosis fungoides.

BACKGROUND: Limited therapeutic options are available for patients with advanced-stage mycosis fungoides (MF), and the 5-year survival rate is 25%. Du...

Prot-ΔΔG: Prediction of protein-protein binding affinity changes upon mutations with pre-training strategies.

Protein-protein interactions are essential for diverse biological activities, but amino acid mutations can disrupt these interactions, leading to dysf...

Mapping the research landscape of myelodysplastic syndromes: a scientometric analysis (2014-2025).

This scientometric study critically evaluates the global evolution of myelodysplastic syndromes (MDS) research from 2014 to 2025, aiming to integrate ...