AIMC Topic: Phenotype

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OARD: Open annotations for rare diseases and their phenotypes based on real-world data.

American journal of human genetics
Diagnosis for rare genetic diseases often relies on phenotype-driven methods, which hinge on the accuracy and completeness of the rare disease phenotypes in the underlying annotation knowledgebase. Existing knowledgebases are often manually curated w...

PheValuator 2.0: Methodological improvements for the PheValuator approach to semi-automated phenotype algorithm evaluation.

Journal of biomedical informatics
PURPOSE: Phenotype algorithms are central to performing analyses using observational data. These algorithms translate the clinical idea of a health condition into an executable set of rules allowing for queries of data elements from a database. PheVa...

Prediction and evaluation of combination pharmacotherapy using natural language processing, machine learning and patient electronic health records.

Journal of biomedical informatics
Combination pharmacotherapy targets key disease pathways in a synergistic or additive manner and has high potential in treating complex diseases. Computational methods have been developed to identifying combination pharmacotherapy by analyzing large ...

Deep learning prediction of chemical-induced dose-dependent and context-specific multiplex phenotype responses and its application to personalized alzheimer's disease drug repurposing.

PLoS computational biology
Predictive modeling of drug-induced gene expressions is a powerful tool for phenotype-based compound screening and drug repurposing. State-of-the-art machine learning methods use a small number of fixed cell lines as a surrogate for predicting actual...

High-throughput image-based plant stand count estimation using convolutional neural networks.

PloS one
The landscape of farming and plant breeding is rapidly transforming due to the complex requirements of our world. The explosion of collectible data has started a revolution in agriculture to the point where innovation must occur. To a commercial orga...

Assessing the utility value of Hucul horses using classification models, based on artificial neural networks.

PloS one
The aim of this study was to evaluate factors influencing the performance of Hucul horses and to develop a prediction model, based on artificial neural (AI) networks for predict horses' classification, relying on their performance value assessment du...

Phenotypes of sickle cell intensive care admissions: an unsupervised machine learning approach in a single-center retrospective cohort.

Annals of hematology
Sickle cell disease (SCD) is associated with multiple known complications and increased mortality. This study aims to further understand the profile of intensive care unit (ICU) admissions of SCD patients. In this single-center retrospective cohort (...

Dimensionality reduction of longitudinal 'omics data using modern tensor factorizations.

PLoS computational biology
Longitudinal 'omics analytical methods are extensively used in the evolving field of precision medicine, by enabling 'big data' recording and high-resolution interpretation of complex datasets, driven by individual variations in response to perturbat...

Gene function prediction in five model eukaryotes exclusively based on gene relative location through machine learning.

Scientific reports
The function of most genes is unknown. The best results in automated function prediction are obtained with machine learning-based methods that combine multiple data sources, typically sequence derived features, protein structure and interaction data....

Interpretable modeling of genotype-phenotype landscapes with state-of-the-art predictive power.

Proceedings of the National Academy of Sciences of the United States of America
Large-scale measurements linking genetic background to biological function have driven a need for models that can incorporate these data for reliable predictions and insight into the underlying biophysical system. Recent modeling efforts, however, pr...