AIMC Topic: Phenotype
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Performance of deep-learning-based approaches to improve polygenic scores.
Nature communications
Jun 2, 2025
Polygenic scores, which estimate an individual's genetic propensity for a disease or trait, have the potential to become part of genomic healthcare. Neural-network based deep-learning has emerged as a method of intense interest to model complex, nonl...
Enhancing the Accuracy of Human Phenotype Ontology Identification: Comparative Evaluation of Multimodal Large Language Models.
Journal of medical Internet research
Jun 2, 2025
BACKGROUND: Identifying Human Phenotype Ontology (HPO) terms is crucial for diagnosing and managing rare diseases. However, clinicians, especially junior physicians, often face challenges due to the complexity of describing patient phenotypes accurat...
Improving plant breeding through AI-supported data integration.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik
Jun 2, 2025
Integrating, learning from, and predicting using vast datasets from various scales, platforms, and species is crucial for advancing crop improvement through breeding. Artificial intelligence (AI) is a broad category of methods, many of which have bee...
Single-cell data combined with phenotypes improves variant interpretation.
BMC genomics
May 28, 2025
BACKGROUND: Whole genome sequencing offers significant potential to improve the diagnosis and treatment of rare diseases by enabling the identification of thousands of rare, potentially pathogenic variants. Existing variant prioritisation tools can b...
Exploring voice as a digital phenotype in adults with ADHD.
Scientific reports
May 24, 2025
Current diagnostic procedures for attention deficit hyperactivity disorder (ADHD) are mainly subjective and prone to bias. While research on potential biomarkers, including EEG, brain imaging, and genetics is promising, it has yet to demonstrate clin...
Characterising physical activity patterns in community-dwelling older adults using digital phenotyping: a 2-week observational study protocol.
BMJ open
May 24, 2025
INTRODUCTION: Physical activity (PA) is crucial for older adults' well-being and mitigating health risks. Encouraging active lifestyles requires a deeper understanding of the factors influencing PA, which conventional approaches often overlook by ass...
Analysis of the heterogeneous treatment effect of vasoactive drug dosage and time on hospital mortality across different sepsis phenotypes: a retrospective cohort study.
European journal of medical research
May 24, 2025
BACKGROUND: The heterogeneity of sepsis poses challenges for the individualized treatment of vasoactive drugs.
Using Digital Phenotyping to Discriminate Unipolar Depression and Bipolar Disorder: Systematic Review.
Journal of medical Internet research
May 23, 2025
BACKGROUND: Differentiating bipolar disorder (BD) from unipolar depression (UD) is essential, as these conditions differ greatly in their progression and treatment approaches. Digital phenotyping, which involves using data from smartphones or other d...
Developing cardiac digital twin populations powered by machine learning provides electrophysiological insights in conduction and repolarization.
Nature cardiovascular research
May 16, 2025
Large-cohort imaging and diagnostic studies often assess cardiac function but overlook underlying biological mechanisms. Cardiac digital twins (CDTs) are personalized physics-constrained and physiology-constrained in silico representations, uncoverin...
Compositional transformations can reasonably introduce phenotype-associated values into sparse features.
mSystems
May 2, 2025
UNLABELLED: Gihawi et al. (mBio 14:e01607-23, 2023, https://doi.org/10.1128/mbio.01607-23) argued that the analysis of tumor-associated microbiome data by Poore et al. (Nature 579:567-574, 2020, https://doi.org/10.1038/s41586-020-2095-1) is invalid b...
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