AIMC Topic: Phenotype
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High Throughput Phenotyping of Physician Notes with Large Language and Hybrid NLP Models.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
Jul 1, 2024
Deep phenotyping is the detailed description of patient signs and symptoms using concepts from an ontology. The deep phenotyping of the numerous physician notes in electronic health records requires high throughput methods. Over the past 30 years, pr...
FastHPOCR: pragmatic, fast, and accurate concept recognition using the human phenotype ontology.
Bioinformatics (Oxford, England)
Jul 1, 2024
MOTIVATION: Human Phenotype Ontology (HPO)-based phenotype concept recognition (CR) underpins a faster and more effective mechanism to create patient phenotype profiles or to document novel phenotype-centred knowledge statements. While the increasing...
Unraveling the complexity of the senescence-associated secretory phenotype in adamantinomatous craniopharyngioma using multimodal machine learning analysis.
Neuro-oncology
Jun 3, 2024
BACKGROUND: Cellular senescence can have positive and negative effects on the body, including aiding in damage repair and facilitating tumor growth. Adamantinomatous craniopharyngioma (ACP), the most common pediatric sellar/suprasellar brain tumor, p...
Generative AI in glioma: Ensuring diversity in training image phenotypes to improve diagnostic performance for IDH mutation prediction.
Neuro-oncology
Jun 3, 2024
BACKGROUND: This study evaluated whether generative artificial intelligence (AI)-based augmentation (GAA) can provide diverse and realistic imaging phenotypes and improve deep learning-based classification of isocitrate dehydrogenase (IDH) type in gl...
Arrhythmic Mitral Valve Prolapse Phenotype: An Unsupervised Machine Learning Analysis Using a Multicenter Cardiac MRI Registry.
Radiology. Cardiothoracic imaging
Jun 1, 2024
Purpose To use unsupervised machine learning to identify phenotypic clusters with increased risk of arrhythmic mitral valve prolapse (MVP). Materials and Methods This retrospective study included patients with MVP without hemodynamically significant ...
From machine learning to clinical practice: phenotypic clusters of anti-MDA5 antibody-positive dermatomyositis.
Briefings in bioinformatics
May 23, 2024
DeLIVR: a deep learning approach to IV regression for testing nonlinear causal effects in transcriptome-wide association studies.
Biostatistics (Oxford, England)
Apr 15, 2024
Transcriptome-wide association studies (TWAS) have been increasingly applied to identify (putative) causal genes for complex traits and diseases. TWAS can be regarded as a two-sample two-stage least squares method for instrumental variable (IV) regre...
Genotypic-phenotypic landscape computation based on first principle and deep learning.
Briefings in bioinformatics
Mar 27, 2024
The relationship between genotype and fitness is fundamental to evolution, but quantitatively mapping genotypes to fitness has remained challenging. We propose the Phenotypic-Embedding theorem (P-E theorem) that bridges genotype-phenotype through an ...
Toward robust and privacy-enhanced facial recognition: A decentralized blockchain-based approach with GANs and deep learning.
Mathematical biosciences and engineering : MBE
Feb 26, 2024
In recent years, the extensive use of facial recognition technology has raised concerns about data privacy and security for various applications, such as improving security and streamlining attendance systems and smartphone access. In this study, a b...
The Human Phenotype Ontology in 2024: phenotypes around the world.
Nucleic acids research
Jan 5, 2024
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similar...
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