Genetics

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 a...

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 ...

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 measuremen...

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 du...

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

In neuroscience, joint receptors have traditionally been viewed as limit detectors, providing positi...

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 sinc...

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 geno...

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 ...

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 hepatocellula...

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 cy...

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

By influencing gene expression and contributing to epigenetic modifications, Ribonucleic Acid (RNA) ...

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 (...

Shared diagnostic biomarkers and diagnostic models of age-related macular degeneration and systemic lupus erythematosus.

PURPOSE: This study aimed to investigate the potential link between age-related macular degeneration...

Identification and validation of NETs-related biomarkers in hepatocellular carcinoma through bioinformatics analysis and machine learning algorithms.

BACKGROUND: Emerging evidence highlights the significant role of Neutrophil Extracellular Traps (NET...

Integrative Multiomics and Drug Sensitivity Profiling Reveal Potential Biomarkers and Therapeutic Strategies in Pediatric Solid Tumors.

UNLABELLED: Cure rates for childhood malignancies using established therapy protocols have increased...

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.

OBJECTIVE: Genomic sequencing leaves >50% of dystonia-affected individuals without a diagnosis. Wher...

Learning genetic perturbation effects with variational causal inference.

Advances in sequencing technologies have enhanced the understanding of gene regulation in cells. In ...

Molecular classification of radiation-induced meningiomas.

PURPOSE: Radiation-induced meningiomas (RIMs) are an uncommon late complication of cranial irradiati...

Customizing CRISPR-Cas PAM specificity with protein language models.

CRISPR-Cas enzymes must recognize a protospacer-adjacent motif (PAM) to edit a genomic site, greatly...

Cardiovascular measures from abdominal MRI provide insights into abdominal vessel genetic architecture.

BACKGROUND: Cardiovascular disease remains a major source of morbidity and mortality, and population...