Genetics

Leveraging in-silico deep learning and computational analyses to predict the pathogenicity of ROBO4 variants of uncertain significance in aortic aneurysm and dissection patients.

Variants of uncertain significance (VUS) in genes implicated in thoracic aortic aneurysm (TAA) present clinical challenges due to ambiguous pathogenicity and low patient representation. This study investigates the pathogenic potential of missense VUS in the ROBO4 gene, previously associated with vascular integrity and ascending aortic aneurysm. Clinical and genetic data from five patients with het...

PRDX6 as a Ferroptosis-Related Hub Gene in the Entorhinal Cortex of Alzheimer's Disease: A Multidimensional Bioinformatics and Experimental Validation Study.

Ferroptosis, an iron-dependent regulated cell death form, is a key pathogenic mechanism in Alzheimer's disease (AD), especially in the entorhinal cortex, a brain region selectively vulnerable to early AD neuropathology. This study aimed to identify peroxiredoxin 6 (PRDX6) as a novel ferroptosis-related hub gene in the entorhinal cortex and validate its diagnostic and therapeutic potential in AD. G...

Identification of common genes and biomarkers between Dermatomyositis and rheumatoid arthritis through integrated bioinformatics.

BACKGROUND: Dermatomyositis (DM) and rheumatoid arthritis (RA) share immuno-inflammatory features, yet mechanisms underlying their comorbidity remain ...

DNA-Driven EEG monitoring for rapid seizure prediction in healthcare.

BACKGROUND AND OBJECTIVE: Worldwide, over 50 million people suffer from epilepsy, a neurological disorder characterised by recurrent seizures due to a...

Revealing the function and mechanism of piRNA-related genes in bladder cancer through single-cell sequencing and methylation analyses and construction of prognostic features based on consensus clustering.

BACKGROUND: This study aimed to explore the functions and potential mechanisms of PIWI-interacting RNA-related genes (piRPGs) in bladder cancer (BC) d...

AlphaMissense pathogenicity scores predict response to immunotherapy and enhances the predictive capability of tumor mutation burden.

Tumor Mutational Burden (TMB) is a widely used biomarker for selecting cancer patients for immune checkpoint inhibitor (ICI) therapy. However, TMB alo...

Efficient development of a neural network potential for pure silica zeolites.

The use of machine learning interatomic potentials (MLIPs) has increased the size and timeframe of molecular dynamics simulations by offering accuracy...

FPGDKG 1.0: An Integrated Facial Phenotype-Gene-Disease Knowledge Graph for Rare Disease Diagnosis and Explanation.

Rare diseases pose significant diagnostic challenges due to their low prevalence, limited clinical awareness, and pronounced phenotypic heterogeneity....

Computational and Experimental Realization of Metal-Ion-Doped Orthorhombic Sn3O4 for Visible-Light-Active Photocatalysis.

The orthorhombic tri-tin tetraoxide (Sn3O4) is a newly discovered polymorph and has attracted great attention due to its visible-light absorption capa...

spRefine denoises and imputes spatial transcriptomics with a reference-free framework powered by genomic language model.

The analysis of spatial transcriptomics is hindered by high noise levels and missing gene measurements, challenges that are further compounded by the ...

An absolute quantification atlas of small non-coding RNAs across diverse mammalian tissues and cell lines.

The low quantitative accuracy of conventional small noncoding RNA sequencing (sncRNA-seq) methods due to extensive ligation bias commonly limits funct...

Exploring the proprioceptive potential of joint receptors using a biomimetic robotic joint.

In neuroscience, joint receptors have traditionally been viewed as limit detectors, providing positional information only at extreme joint angles, whi...

Predicting genetic evolution of viruses to identify suitable vaccines using artificial intelligence.

The evolution of the viruses is rapidly becoming a global challenge to the creation of vaccines since the new variants are often capable of escaping t...

Genetic polymorphisms in DNA repair gene XRCC1 and the risk of diabetic polyneuropathy.

A DNABERT based deep learning framework for predicting transcription factor binding sites.

Transcription factors are proteins that regulate the expression of genes by binding to specific genomic regions known as Transcription Factor Binding ...

Machine learning framework for mRNA alternative splicing analysis identifies a signature of progression in colorectal adenocarcinoma.

Despite recent advances in genome-wide profiling and the discovery of novel therapeutic options for colorectal adenocarcinoma (COAD), effective patien...

Integrated multi-dataset screening to predict prognosis and identify immunotherapy gene targets in hepatocellular carcinoma patients.

This study systematically predicts prognosis and key gene targets for immunotherapy in hepatocellular carcinoma (HCC) patients based on the joint scre...

AI-Assisted Chromosome Aberration Analysis for Rapid Biological Dose Estimation of Ionizing Radiation.

Radiation dose assessment in exposed individuals relies on the dicentric assay, the gold-standard cytogenetic biodosimeter that quantifies radiation-i...

Deep learning framework for RNA 5hmC prediction using RNA language model embeddings.

By influencing gene expression and contributing to epigenetic modifications, Ribonucleic Acid (RNA) 5-Hydroxymethylcytosine (5hmC) modification signif...

Machine learning-assisted screening of small-molecule drugs for suppressing protein aggregation and ROS generation based on ECL and CV dual-mode signals amplified by DNA.

Screening of small-molecule drugs to suppress both protein aggregation and reactive oxygen species (ROS) generation is critical for developing therapi...