Genetics

Deep Learning-Guided Retinal Vascular Morphometric Quantification in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Mouse Models.

PURPOSE: To develop and validate an explainable deep learning-guided workflow to localize and quantify focal retinal luminal pathology on fundus fluorescein angiography (FFA) in NOTCH3 variant knock-in mouse models of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. DESIGN: Cross-sectional experimental imaging and computational analysis. SUBJECTS: Thirty-...

Video-based gait analysis for clinical monitoring of genotype-specific functional patterns in osteogenesis imperfecta.

BACKGROUND: Osteogenesis imperfecta (OI) is characterized by substantial genetic and functional heterogeneity, yet low-burden objective tools for repeated gait monitoring in routine outpatient care remain limited. This study investigated whether routine smartphone videos combined with markerless pose estimation could capture genotype-associated gait patterns in children with IFITM5- and WNT1-relat...

TENTACLES: a consensus machine learning tool for robust biomarker discovery in heterogeneous data.

BACKGROUND: Transcriptomic biomarker discovery often fails to produce reproducible gene signatures across independent cohorts due to model-specific bi...

Deep Learning-Driven Saccharide Online Sequencing for Elucidating the Pathological Alterations of Heparan Sulfate in APAP-Induced Acute Liver Injury.

Heparan sulfate (HS), one of the mostly negatively charged biomacromolecules anchored on the membrane surface of nearly all mammal cells, plays critic...

Pre-operative MRI-Based Radiomics for Predicting Telomerase Reverse Transcriptase Promoter Mutation Status in Glioma Patients: A Systematic Review and Meta-analysis.

TERT promoter (TERTp) mutations shape glioma prognosis and therapy, yet tissue testing can be limited by sampling error and surgical inaccessibility. ...

Current Understandings and Future Opportunities Related to the Structure Direction in Zeolite Synthesis.

Porous materials are intrinsically metastable structures owing to the presence of voids, which form in opposition to thermodynamic driving forces of c...

Cell Type Prediction for Single-Cell RNA Sequencing Utilizing Unsupervised Domain Adaptation and Semi-Supervised Learning.

Single-cell RNA sequencing (scRNA-seq) techniques for measuring gene expression in individual cells have developed rapidly. Recently, the identificati...

Identifying the relationship between exosome genes and breast cancer risk using bioinformatics and machine learning methods.

BACKGROUND: Breast cancer (BC) is the most prevalent cancer among women globally, with a high mortality rate. The treatment and prevention of this dis...

Identifying PLAU as a shared pathogenic gene in type 2 diabetes and bladder urothelial carcinoma through integrated transcriptomic analysis and machine learning for diagnostic and therapeutic value.

Type 2 diabetes mellitus (T2DM) and bladder urothelial carcinoma (BLCA) are two kinds of diseases that seriously threaten human health. Their pathogen...

Multi-Omics Integration Reveals the Genetic Mechanisms of Periodontitis and Predicts Therapeutic Drugs.

BACKGROUND: Periodontitis is a chronic inflammatory disease driven by host immune dysregulation. However, the specific genetic regulatory mechanisms u...

The Use of Deep Learning in RNA Therapeutic Development.

Ribonucleic acid (RNA)-based therapeutics have emerged as promising methods of disease treatment due to their ability to target the human genome and i...

From DNA to Drug Discovery AI Models for Cardiovascular Precision Medicine.

Cardiovascular diseases remain the world's leading cause of death-yet the molecular mechanisms linking genetic variation to clinical outcomes are stil...

IBDome: An integrated molecular, histopathological, and clinical atlas of inflammatory bowel diseases.

BACKGROUND & AIMS: Multi-omic and multimodal datasets with detailed clinical annotations offer significant potential to advance our understanding of i...

Genomics of Dendritic Cell Pyruvate Metabolism Reveals Stage-Associated Circulating Immune Signatures in Diabetic Retinopathy.

BACKGROUND: The role of circulating pyruvate in diabetic retinopathy (DR) progression is poorly defined. Unravelling its cell-specific genomic regulat...

Bulk and single-cell transcriptomics reveal prognostic signatures of phosphoinositide metabolism in lung adenocarcinoma.

Lung adenocarcinoma (LUAD) is one of the most severe malignant tumors. Phosphoinositides metabolism (PIM) plays an important role in maintaining the n...

SERPINA3 and NDRG1 are critical diagnostic immune genes associated with macrophages in preeclampsia.

Preeclampsia (PE) is a pregnancy complication involving immune dysregulation. This study aims to identify diagnostic immune biomarkers for PE using ma...

Machine learning defines a histone deacetylase-associated transcriptional prognostic signature with single-cell resolution in breast cancer.

BACKGROUND: Breast cancer (BC) is a highly heterogeneous malignancy, and transcriptional programs associated with histone deacetylases (HDACs) may pro...

Deciphering the potential molecular links between ochratoxin A and colorectal cancer: an integrated computational toxicological and single-cell transcriptomic study.

BACKGROUND: Ochratoxin A (OTA), a common foodborne mycotoxin, is classified as a potential human carcinogen. However, the specific molecular mechanism...

Predicting gene essentiality and drug response from preclinical perturbation screens with layered ensemble of autoencoders and predictors.

High-throughput preclinical perturbation screens, where the effects of genetic, chemical, or environmental perturbations are systematically tested on ...

Identification of Chronic Stress-Related Biomarkers for Potential Diagnosis and Treatment of Osteoporosis: An Integrated Multi-omic and Clinical Data Analysis.

OBJECTIVE: The mechanisms through which chronic stress-related genes influence the diagnosis of osteoporosis (OP), where chronic stress serves as a ri...