Desmin-related diseases are characterized by skeletal muscle weakness, cardiomyopathy, and respiratory dysfunction due to mutations in the desmin gene (DES), which encodes a protein essential for muscle cell integrity. This study investigates the eff...
Automatic phenotype extraction and assertion negation detection from large-scale accessible Electronic Health Records (EHRs), including discharge summaries and radiology reports, is a crucial task for various healthcare applications, such as disease ...
International journal of medical informatics
Jun 21, 2025
BACKGROUND: Patients with rare diseases frequently experience misdiagnoses and long diagnostic delays. Accelerating their diagnosis is essential to ensure timely access to appropriate care. Given the increasing availability of EHRs, combining artific...
The integration of big data and artificial intelligence (AI) has revolutionized biomedicine, enhancing our understanding of diseases and health care practices. Although AI has shown remarkable success in some medical fields, its application in nephro...
Electronic health records, biobanks, and wearable biosensors enable the collection of multiple health modalities from many individuals. Access to multimodal health data provides a unique opportunity for genetic studies of complex traits because diffe...
Diagnosing mitochondrial diseases remains challenging because of the heterogeneous symptoms. This study aims to use machine learning to predict mitochondrial diseases from phenotypes to reduce genetic testing costs. This study included patients who u...
Integrating multiple lines of evidence that support molecular taxonomy analysis has proven to be a robust method for species delimitation in scleractinian corals. However, morphology often conflicts with genetic approaches due to high phenotypic plas...
Current opinion in nephrology and hypertension
Jun 12, 2025
PURPOSE OF REVIEW: The purpose of this review is to describe recent and important updates in acute kidney injury (AKI) phenotyping that help us to move beyond the clinical syndrome of AKI.
Proceedings of the National Academy of Sciences of the United States of America
Jun 12, 2025
The relationship between genotype and phenotype remains an outstanding question for organism-level traits because these traits are generally . The challenge arises from complex traits being determined by a combination of multiple genes (or loci), whi...
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik
Jun 12, 2025
A theoretical framework for AI and ensembled prediction for crop improvement is introduced and demonstrated using the logistic map. Symbolic/sub-symbolic AI-based prediction can increase predictive skill with increase in system complexity. The curse ...
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