AIMC Topic: Phenotype

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Multimodal learning for mapping genotype-phenotype dynamics.

Nature computational science Jan 28, 2025
How complex phenotypes emerge from intricate gene expression patterns is a fundamental question in biology. Integrating high-content genotyping approaches such as single-cell RNA sequencing and advanced learning methods such as language models offers...
Gene Expression Profiling Transcriptome Single-Cell Analysis Humans von Willebrand Factor Genotype Machine Learning Genetic Association Studies Phenotype Computational Biology
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Mental health phenotypes of well-controlled HIV in Uganda.

Frontiers in public health Jan 28, 2025
INTRODUCTION: The phenotypic expression of mental health (MH) conditions among people with HIV (PWH) in Uganda and worldwide are heterogeneous. Accordingly, there has been a shift toward identifying MH phenotypes using data-driven methods capable of ...
Middle Aged Adult Humans Anxiety HIV Infections Surveys and Questionnaires Phenotype Uganda Mental Health Female Male Stress Disorders, Post-Traumatic
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Analysis of the genetic basis of fiber-related traits and flowering time in upland cotton using machine learning.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik Jan 24, 2025
Cotton is an important crop for fiber production, but the genetic basis underlying key agronomic traits, such as fiber quality and flowering days, remains complex. While machine learning (ML) has shown great potential in uncovering the genetic archit...
Cotton Fiber Gossypium Quantitative Trait Loci Genome-Wide Association Study Machine Learning Polymorphism, Single Nucleotide Phenotype Flowers
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Machine Learning-based Cluster Analysis Identifies Three Unique Phenotypes of Patients With Adult Spinal Deformity With Distinct Clinical Profiles and Long-term Recovery Trajectory: A Development Study.

Spine Jan 21, 2025
STUDY DESIGN: A retrospective review of a prospective adult spinal deformity data.
Humans Spinal Curvatures Machine Learning Retrospective Studies Cluster Analysis Adult Phenotype Female Male Aged Recovery of Function Middle Aged Scoliosis
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Analyzing the relationship between gene expression and phenotype in space-flown mice using a causal inference machine learning ensemble.

Scientific reports Jan 18, 2025
Spaceflight has several detrimental effects on human and rodent health. For example, liver dysfunction is a common phenotype observed in space-flown rodents, and this dysfunction is partially reflected in transcriptomic changes. Studies linking trans...
Liver Space Flight Machine Learning Phenotype Transcriptome Mice Animals Gene Expression Profiling
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Multiple, Single Trait GWAS and Supervised Machine Learning Reveal the Genetic Architecture of Fraxinus excelsior Tolerance to Ash Dieback in Europe.

Plant, cell & environment Jan 17, 2025
Common ash (Fraxinus excelsior) is under intensive attack from the invasive alien pathogenic fungus Hymenoscyphus fraxineus, causing ash dieback at epidemic levels throughout Europe. Previous studies have found significant genetic variation among gen...
Genotype Europe Plant Diseases Ascomycota Disease Resistance Fraxinus Phenotype Genome-Wide Association Study Polymorphism, Single Nucleotide Machine Learning
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Deep learning-based assessment of missense variants in the gene presented with bilateral congenital cataract.

BMJ open ophthalmology Jan 14, 2025
OBJECTIVE: We compared the protein structure and pathogenicity of clinically relevant variants of the gene with AlphaFold2 (AF2), Alpha Missense (AM), and ThermoMPNN for the first time.
Male Deep Learning Cataract Humans Phenotype Female Mutation, Missense
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Annotation-free deep learning algorithm trained on hematoxylin & eosin images predicts epithelial-to-mesenchymal transition phenotype and endocrine response in estrogen receptor-positive breast cancer.

Breast cancer research : BCR Jan 12, 2025
Recent evidence indicates that endocrine resistance in estrogen receptor-positive (ER+) breast cancer is closely correlated with phenotypic characteristics of epithelial-to-mesenchymal transition (EMT). Nonetheless, identifying tumor tissues with a m...
Phenotype Female Breast Neoplasms Humans Algorithms Eosine Yellowish-(YS) Hematoxylin Drug Resistance, Neoplasm Receptors, Estrogen Antineoplastic Agents, Hormonal Biomarkers, Tumor Deep Learning Epithelial-Mesenchymal Transition
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A high-throughput ResNet CNN approach for automated grapevine leaf hair quantification.

Scientific reports Jan 10, 2025
The hairiness of the leaves is an essential morphological feature within the genus Vitis that can serve as a physical barrier. A high leaf hair density present on the abaxial surface of the grapevine leaves influences their wettability by repelling f...
Phenotype Image Processing, Computer-Assisted Plant Leaves Vitis Neural Networks, Computer Algorithms
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Applying artificial intelligence to uncover the genetic landscape of coagulation factors.

Journal of thrombosis and haemostasis : JTH Jan 9, 2025
Artificial intelligence (AI) is rapidly advancing our ability to identify and interpret genetic variants associated with coagulation factor deficiencies. This review introduces AI, with a specific focus on machine learning (ML) methods, and examines ...
Mutation Humans Genetic Variation Artificial Intelligence Blood Coagulation Factors Hemophilia A Genetic Predisposition to Disease Machine Learning Genetic Association Studies Phenotype Blood Coagulation
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