AIMC Topic: Phenotype

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Predicting functional effects of ion channel variants using new phenotypic machine learning methods.

PLoS computational biology Mar 6, 2023
Missense variants in genes encoding ion channels are associated with a spectrum of severe diseases. Variant effects on biophysical function correlate with clinical features and can be categorized as gain- or loss-of-function. This information enables...
Humans Machine Learning Phenotype Supervised Machine Learning Genetic Association Studies Ion Channels
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Deep Learning Phenotype Automation and Cohort Analyses of 1,946 Knees Using the Coronal Plane Alignment of the Knee Classification.

The Journal of arthroplasty Feb 28, 2023
BACKGROUND: The Coronal Plane Alignment of the Knee (CPAK) classification allows for knee phenotyping which can be used in preoperative planning prior to total knee arthroplasty. We used deep learning (DL) to automate knee phenotyping and analyzed CP...
Retrospective Studies Humans Female Male Phenotype Tibia Cohort Studies Deep Learning Osteoarthritis, Knee Knee Joint
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Uncovering the complex genetic architecture of human plasma lipidome using machine learning methods.

Scientific reports Feb 22, 2023
Genetic architecture of plasma lipidome provides insights into regulation of lipid metabolism and related diseases. We applied an unsupervised machine learning method, PGMRA, to discover phenotype-genotype many-to-many relations between genotype and ...
Unsupervised Machine Learning Lipidomics Genotype Humans Machine Learning Phenotype Polymorphism, Single Nucleotide
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Deep learning-extracted CT imaging phenotypes predict response to total resection in colorectal cancer.

Acta radiologica (Stockholm, Sweden : 1987) Feb 10, 2023
BACKGROUND: Deep learning surpasses many traditional methods for many vision tasks, allowing the transformation of hierarchical features into more abstract, high-level features.
Deep Learning Humans Phenotype Tomography, X-Ray Computed Colorectal Neoplasms
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Identifying congenital generalized lipodystrophy using deep learning-DEEPLIPO.

Scientific reports Feb 7, 2023
Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disease characterized by near complete absence of functional adipose tissue from birth. CGL diagnosis can be based on clinical data including acromegaloid features, acanthosis n...
Humans Phenotype Adipose Tissue Deep Learning Lipodystrophy Lipodystrophy, Congenital Generalized
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Searching by parts: Towards fine-grained image retrieval respecting species correlation.

Gene expression patterns : GEP Feb 6, 2023
Most of the existing works on fine-grained image categorization and retrieval focus on finding similar images from the same species and often give little importance to inter-species similarities. However, these similarities may carry species correlat...
Phenotype Image Processing, Computer-Assisted Animals Dogs Neural Networks, Computer
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Expectile Neural Networks for Genetic Data Analysis of Complex Diseases.

IEEE/ACM transactions on computational biology and bioinformatics Feb 6, 2023
The genetic etiologies of common diseases are highly complex and heterogeneous. Classic methods, such as linear regression, have successfully identified numerous variants associated with complex diseases. Nonetheless, for most diseases, the identifie...
Phenotype Genetic Variation Neural Networks, Computer Linear Models
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Evaluation of the portability of computable phenotypes with natural language processing in the eMERGE network.

Scientific reports Feb 3, 2023
The electronic Medical Records and Genomics (eMERGE) Network assessed the feasibility of deploying portable phenotype rule-based algorithms with natural language processing (NLP) components added to improve performance of existing algorithms using el...
Genomics Algorithms Natural Language Processing Phenotype Electronic Health Records
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Performance of the Vitek 2 Advanced Expert System (AES) as a Rapid Tool for Reporting Antimicrobial Susceptibility Testing (AST) in from North and Latin America.

Microbiology spectrum Jan 16, 2023
This study evaluated the performance of the Vitek 2 Advanced Expert System (AES) confidence level report as a rapid tool for reporting antimicrobial susceptibility testing (AST) results for a challenging set of isolates from North and Latin America....
Genotype beta-Lactamases Expert Systems Anti-Bacterial Agents Phenotype Latin America Microbial Sensitivity Tests
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Deep learning in image-based phenotypic drug discovery.

Trends in cell biology Jan 7, 2023
Modern drug discovery approaches often use high-content imaging to systematically study the effect on cells of large libraries of chemical compounds. By automatically screening thousands or millions of images to identify specific drug-induced cellula...
Phenotype Drug Discovery Artificial Intelligence Machine Learning Deep Learning
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