Genetics

Integrated Nanopore and short-read RNA sequencing identifies dysregulation of METTL3- m6A modifications in endocrine therapy- sensitive and resistant breast cancer cells.

The role of epitranscriptomic changes in the development of acquired endocrine therapy (ET)- resistance in estrogen receptor α (ER) expressing breast cancer (BC) is unknown. We tested the hypothesis that inhibition of METTL3, the methyltransferase responsible for the mRNA modification N-6 methyladenosine (m6A), alters m6A modifications and differentially regulates the abundance of mRNA transcripts...

Leveraging machine learning models to evaluate immune infiltration in the ovarian cancer microenvironment: a single-cell analysis approach.

BACKGROUND: The prognosis of ovarian cancer is closely related to the degree of immune cell infiltration within the tumor microenvironment. However, current methods for assessing immune infiltration have certain subjective limitations. This study aimed to establish an objective assessment model based on machine learning and single-cell RNA sequencing data to provide a basis for the individualized ...

CRISPR/Cas-Based Biosensing Strategies for Non-Nucleic Acid Contaminants in Food Safety: Status, Challenges, and Perspectives.

Non-nucleic acid targets (non-NATs), such as heavy metals, toxins, and pesticide residues, pose critical threats to food safety. Although CRISPR/Cas s...

Machine learning using genotype and gene-expression data identifies alterations of genes involved in infection susceptibility, antigen presentation and cytokine signalling as key contributors to JIA risk prediction.

BACKGROUND: Previous genome-wide association studies (GWAS) have identified numerous genetic loci associated with juvenile idiopathic arthritis (JIA)....

Metastability and Ostwald step rule in the crystallisation of diamond and graphite from molten carbon.

Experimental challenges in determining the phase diagram of carbon at temperatures and pressures near the graphite-diamond-liquid triple point are oft...

Enhanced detection of Mpox using federated learning with hybrid ResNet-ViT and adaptive attention mechanisms.

Monkeypox (Mpox), caused by the monkeypox virus, has become a global concern due to its rising cases and resemblance to other rash-causing diseases li...

Improved prediction of MAPKi response duration in melanoma patients using genomic data and machine learning.

Baseline genomic data have not demonstrated significant value for predicting the response duration to MAPK inhibitors (MAPKi) in patients with advance...

Real-world deployment of a fine-tuned pathology foundation model for lung cancer biomarker detection.

Artificial intelligence models using digital histopathology slides stained with hematoxylin and eosin offer promising, tissue-preserving diagnostic to...

Current Bioinformatics Tools in Precision Oncology.

Integrating bioinformatics tools has profoundly transformed precision oncology by identifying essential molecular targets for personalized treatment. ...

OMT and tensor SVD-based deep learning model for segmentation and predicting genetic markers of glioma: A multicenter study.

Glioma is the most common primary malignant brain tumor and preoperative genetic profiling is essential for the management of glioma patients. Our stu...

Hierarchical Prediction and Perturbation of Chromatin Organization Reveal How Loop Domains Mediate Higher-Order Architectures.

The genome is folded within the dense cell nucleus in a hierarchical manner, resulting in complex interactions between distinct folding strategies at ...

Insights into the Diagnosis, Treatment, and Management of Prion Diseases.

The normal cellular prion protein (PrPC) can misfold into an infectious and pathogenic form (PrPSc) to produce prion diseases, also known as transmiss...

Overcoming limitations to customize DeepVariant for domesticated animals with TrioTrain.

Generating high-quality variant callsets across diverse species remains challenging as most bioinformatic tools default to assumptions based on human ...

Deep Learning-Based Classification of NSCLC-Derived Extracellular Vesicles Using AFM Nanomechanical Signatures.

Nonsmall cell lung cancer (NSCLC) remains a leading cause of cancer-related mortality, with liquid biopsy emerging as a promising tool for noninvasive...

AncestryGeni: A novel genetic ancestry classification pipeline for small and noisy sequence data.

MOTIVATION: Efforts to address health disparities are often limited by the lack of robust computational tools for inferring genetic ancestry by calcul...

Deep Learning-Enhanced Hand-Driven Spatial Encoding Microfluidics for Multiplexed Molecular Testing at Home.

The frequent global outbreaks of viral infectious diseases have significantly heightened the urgent demand for molecular testing at home. However, the...

The Impact of Genetic and Acquired Risk Factors on Thromboembolic Events: A Retrospective Study.

This study, involving a cohort of 980 patients with arterial and/or venous events, evaluated the relative importance of genetic and traditional risk f...

Unveiling aging heterogeneities in human dermal fibroblasts via nanosensor chemical cytometry.

Aging heterogeneity in tissue-regenerative cells leads to variable therapeutic outcomes, complicating quality control and clinical predictability. Con...

Identifying propionate metabolism-related genes as biomarkers of sepsis development and therapeutic targets.

The treatment of sepsis is challenging due to unclear mechanisms. Propionate is increasingly seen as critical to sepsis pathophysiology by bridging gu...

Citywide metagenomic surveillance of food centres reveals local microbial signatures and antibiotic resistance gene enrichment.

The distribution of microorganisms in built environments with high human traffic, such as food centres, can potentially have a significant impact on p...