Genetics

Latest AI and machine learning research in genetics for healthcare professionals.

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Cryo-ablation management of atrial fibrillation in Fabry disease without agalsidase alpha: a case report.

Fabry disease (FD) is a rare genetic disorder caused by mutations in the gene, affecting multiple organs. Over 60% of patients experience heart-related issues, primarily arrhythmias. Unlike typical cases, these arrhythmias are complex and often do not respond well to standard antiarrhythmic drugs, sometimes worsening symptoms. This paper presents a case study of a FD patient with paroxysmal atria...

May 30 2025 40520931

Prediction of the Association between Transfer RNA and Diseases: A Deep Learning Approach Combining Multi-View Graph Convolution and Attention Mechanisms.

: Identifying the associations between transfer RNA (tRNA) and diseases is critical for disease diagnosis and treatment. Computational methods offer an efficient approach for exploring these associations. : We proposed an MGC2ATDA model, which integrated a multiview graph convolutional network, a scaled attention fusion module, and a cross-attention mechanism to identify tRNA-disease associations....

May 29 2025 40521536
Brownian motion data augmentation: a method to push neural network performance on nanopore sensors.

MOTIVATION: Nanopores are highly sensitive sensors that have achieved commercial success in DNA/RNA sequencing, with potential applications in protein...

May 29 2025 40439147
CervicalMethDx: a precision DNA methylation test to identify risk of high-grade intraepithelial lesions in cervical cancer screening algorithms.

Cervical cancer is one of the most common cancers in women. Despite progress in prevention and success in early detection through cytologic screening ...

May 29 2025 40439417
An Explainable Multimodal Artificial Intelligence Model Integrating Histopathological Microenvironment and EHR Phenotypes for Germline Genetic Testing in Breast Cancer.

Genetic testing for pathogenic germline variants is critical for the personalized management of high-risk breast cancers, guiding targeted therapies a...

May 29 2025 40439693
Predicting expression-altering promoter mutations with deep learning.

Only a minority of patients with rare genetic diseases are currently diagnosed by exome sequencing, suggesting that additional unrecognized pathogenic...

May 29 2025 40440429
Bioinformatics prediction of function of T-cell exhaustion related genes in ischemic stroke.

Ischemic stroke (IS) is a multifactorial disease caused by the interaction of a variety of environmental and genetic factors, which can lead to severe...

May 29 2025 40442227
Disulfide bond-related gene signature development for bladder cancer prognosis prediction and immune microenvironment characterization.

Bladder cancer is the fourth most common malignant tumor in men, with limited therapeutic biomarkers and heterogeneous responses to immunotherapy. Dis...

May 29 2025 40442298
A protein-based classifier for differentiating follicular thyroid adenoma and carcinoma.

Differentiating follicular thyroid adenoma (FTA) from carcinoma (FTC) remains challenging due to similar histological features separate from invasion....

May 29 2025 40442320
A visual-omics foundation model to bridge histopathology with spatial transcriptomics.

Artificial intelligence has revolutionized computational biology. Recent developments in omics technologies, including single-cell RNA sequencing and ...

May 29 2025 40442373
BindUP-Alpha: A Webserver for Predicting DNA-and RNA-binding Proteins based on Experimental and Computational Structural Modelsā˜†.

Structural data provides important information on the proteins' function. Recent development of advanced machine learning and artificial intelligence ...

May 29 2025 40449614
Advances in the Directed Evolution of Computer-aided Enzymes.

Experimental-driven directed evolution has achieved remarkable success in enzyme engineering. However, it relies on random mutagenesis and high-throug...

May 29 2025 40454510
Comprehensive duck DNA fingerprinting based on machine learning for breed identification.

Duck is one of the most widely distributed waterfowl in the world, with more than 6 billion of them farmed annually in the world, and has great econom...

May 29 2025 40489932
Integrating Radiogenomics and Machine Learning in Musculoskeletal Oncology Care.

Musculoskeletal tumors present a diagnostic challenge due to their rarity, histological diversity, and overlapping imaging features. Accurate characte...

May 29 2025 40506947
Navigating the future of fertility preservation: advanced predictive strategies for treatment outcomes of endometrial atypical hyperplasia and carcinoma.

Due to the decreasing age of onset and the postponement of childbearing, there is a growing number of patients with endometrial carcinoma (EC) and end...

May 29 2025 40517020
Pathomics in Gastrointestinal Tumors: Research Progress and Clinical Applications.

Gastrointestinal tumors are among the malignancies with the highest global incidence and mortality rates, and their diagnosis and treatment heavily re...

May 29 2025 40452669
Unlocking the potential of flavonoid biosynthesis through integrated metabolic engineering.

Flavonoids are a diverse class of plant polyphenols with essential roles in development, defense, and environmental adaptation, as well as significant...

May 29 2025 40510168
Immunotyping the Tumor Microenvironment Reveals Molecular Heterogeneity for Personalized Immunotherapy in Cancer.

The tumor microenvironment (TME) significantly influences cancer prognosis and therapeutic outcomes, yet its composition remains highly heterogeneous,...

May 28 2025 40433880
Genomic advancements in goat breeding: enhancing productivity, disease resistance, and sustainability in India's rural economy.

Goats are vital to the rural economy of India, contributing significantly to livelihoods, nutrition, and agricultural sustainability. With a populatio...

May 28 2025 40434651
Exploring the genetic characteristics of overweight-related osteoarthritis using machine learning.

This investigation employed a synergistic approach integrating bioinformatics and machine learning methodologies to scrutinize overweight-related oste...

May 28 2025 40436638
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