Genetics

E-InfertilityTest: Implementing an explainable AI framework for male infertility assessment.

Male infertility has emerged as a significant concern in modern society, with genetic defects as one of the major underlying cause behind it. This impairment negatively impacts sperm motility and morphology, leading to conditions such as Asthenozoospermia (reduced sperm motility), Teratozoospermia (abnormal sperm morphology) and sometimes Asthenoteratozoospermia (both motility and morphology defec...

Machine learning algorithms develop a tumor-educated platelets-related gene signature to predict colorectal cancer prognosis and therapy response.

Tumor-educated platelets (TEPs) have recently emerged as an important component of liquid biopsy, yet the clinical relevance in colorectal cancer (CRC) remains unclear. Here, we employed 10 machine learning algorithms to develop a stable, accurate TEP-related gene signature (TEPGS) to explore its links to tumor-associated macrophages (TAMs) and spatial platelet abundance. TEPGS correlated strongly...

Weight-Controllable Biobarcode Probes for Multi-input Breast Cancer Diagnosis.

DNA-based molecular classifiers have emerged as a promising strategy for precise cancer diagnosis, offering a superior alternative to invasive biopsy ...

Interaction Between Air Pollution and Genetic Predisposition to Blood Pressure and LDL-C on Cardiovascular Events.

AIMS: Particulate matter ≤2.5μm (PM2.5) air pollution is a leading global environmental risk factor. We investigated the impact of PM2.5 on cardiovasc...

A Phase-Resolved Geometric Deep Learning Framework Maps Structural Determinants of Disease-Associated Protein Aggregation and Guides Suppressor Design.

Protein aggregation drives major neurodegenerative diseases, yet most computational predictors collapse assembly into static risk scores and do not re...

Novel aptamers targeting heparan sulfate for delivery of RNA therapeutics in Alzheimer's disease.

Heparan sulfate (HS) proteoglycans are abundant, sulfation-patterned glycosaminoglycans on brain cells and the neurovascular unit that interact with a...

Hypertonic saline protects the axo-myelinic interface acutely after contusive SCI and improves postural stability and balance as revealed by motion sequencing (MoSeq).

The development of periaxonal swellings and separation of the axo-myelinic interface are prominent features acutely post-contusive spinal cord injury ...

Machine learning-assisted prediction of PANoptosis-related molecular targets and precise screening of neuroprotective drugs for spinal cord injury.

Spinal cord injury (SCI) is a highly disabling central nervous system disease with complex pathology, and targeted neuroprotective drugs remain clinic...

Hybrid deep learning-based rapid broad-Spectrum antimicrobial susceptibility prediction from whole-genome assemblies.

Antimicrobial resistance (AMR) is a global public health threat. Mortality and poor treatment outcomes are the key consequences of AMR. Conventional a...

Single-cell transcriptomic analysis reveals the T lymphocyte microenvironment and identifies HOPX as a hub gene in membranous nephropathy.

BACKGROUND: Membranous nephropathy (MN) is an autoimmune disease characterized by immune complex deposition and progressive renal function impairment....

Guide RNA reprogramming facilitates minimized tracrRNA-dependent off-target and versatile CRISPR/Cas9 engineering.

While innovative, current CRISPR-Cas9 systems face safety concerns and practical hurdles, notably sequence-independent, noncanonical off-targeting. We...

Proteomic Mendelian randomization and machine learning reveal causal plasma biomarkers in cardiorenal comorbidity.

BACKGROUND: Chronic kidney disease (CKD) significantly increases the risk of coronary artery disease (CAD), but the causal plasma proteins linking the...

Machine Diagnostics and Machine Phenotyping of Migraine: A HUNT Study.

BACKGROUND AND OBJECTIVES: In the absence of biomarkers, the true biological footprint of migraine remains incompletely understood. It could perhaps b...

GnnDebugger: GNN based error correction in De Bruijn Graphs.

BACKGROUND: Modern sequencing technologies have enabled the reconstruction of complete mammalian genomes from telomere to telomere. However, scaling t...

Integrative spatiotemporal transcriptomics identifies a liver metastasis-related initial cell population associated with the SEMA3A-NRP1 axis in pancreatic ductal adenocarcinoma.

BACKGROUND: Pancreatic ductal adenocarcinoma (PDAC) is a highly lethal malignancy in which liver metastasis represents the principal determinant of po...

Integrating Machine Learning and Structure-Guided Discovery of a Novel Type II SYK Inhibitor for Treating Triple-Negative Breast Cancer.

Spleen tyrosine kinase (SYK) is a cytoplasmic nonreceptor kinase involved in immune signaling and homologous recombination (HR) repair of DNA double-s...

Application of Hi-C sequencing to detect oncogene rearrangements for diagnosis and treatment of large B-cell lymphoma.

Diffuse large B-cell lymphoma (DLBCL), the most common type of lymphoma, arises from various pathogenic mechanisms including gene translocations and f...

Uterine microbiome signatures associated with endometriosis.

BACKGROUND: Endometriosis is a chronic inflammatory disorder affecting ~ 10% of reproductive-age women, often causing pelvic pain and infertility. Des...

[Construction and validation of a prognostic prediction model for children-onset initial steroid-resistant nephrotic syndrome].

Objective: To analyze the risk factors for poor prognosis in children with steroid-resistant nephrotic syndrome (SRNS) and to construct and validate a...

An Integrated Rotation-Programmed and Gravity-Driven Microfluidic Platform for Direct Bacterial Detection from Whole Blood.

For the precise molecular detection of bloodstream infection, sample processing is critical, as it involves purifying pathogenic DNA to circumvent the...