AIMC Topic: Phenotype

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Deep learning-derived cardiovascular age shares a genetic basis with other cardiac phenotypes.

Scientific reports
Artificial intelligence (AI)-based approaches can now use electrocardiograms (ECGs) to provide expert-level performance in detecting heart abnormalities and diagnosing disease. Additionally, patient age predicted from ECGs by AI models has shown grea...

Robotic data acquisition with deep learning enables cell image-based prediction of transcriptomic phenotypes.

Proceedings of the National Academy of Sciences of the United States of America
Single-cell whole-transcriptome analysis is the gold standard approach to identifying molecularly defined cell phenotypes. However, this approach cannot be used for dynamics measurements such as live-cell imaging. Here, we developed a multifunctional...

Klarigi: Characteristic explanations for semantic biomedical data.

Computers in biology and medicine
Annotation of biomedical entities with ontology classes provides for formal semantic analysis and mobilisation of background knowledge in determining their relationships. To date, enrichment analysis has been routinely employed to identify classes th...

Decoding CAR T cell phenotype using combinatorial signaling motif libraries and machine learning.

Science (New York, N.Y.)
Chimeric antigen receptor (CAR) costimulatory domains derived from native immune receptors steer the phenotypic output of therapeutic T cells. We constructed a library of CARs containing ~2300 synthetic costimulatory domains, built from combinations ...

Machine learning for predicting phenotype from genotype and environment.

Current opinion in biotechnology
Predicting phenotype with genomic and environmental information is critically needed and challenging. Machine learning methods have emerged as powerful tools to make accurate predictions from large and complex biological data. Here, we review the pro...

Transfer learning for genotype-phenotype prediction using deep learning models.

BMC bioinformatics
BACKGROUND: For some understudied populations, genotype data is minimal for genotype-phenotype prediction. However, we can use the data of some other large populations to learn about the disease-causing SNPs and use that knowledge for the genotype-ph...

Fisheye transformation enhances deep-learning-based single-cell phenotyping by including cellular microenvironment.

Cell reports methods
Incorporating information about the surroundings can have a significant impact on successfully determining the class of an object. This is of particular interest when determining the phenotypes of cells, for example, in the context of high-throughput...

Artificial intelligence workflow quantifying muscle features on Hematoxylin-Eosin stained sections reveals dystrophic phenotype amelioration upon treatment.

Scientific reports
Cell segmentation is a key step for a wide variety of biological investigations, especially in the context of muscle science. Currently, automated methods still struggle to perform skeletal muscle fiber quantification on Hematoxylin-EosinĀ (HE) staine...

Machine learning applications for transcription level and phenotype predictions.

IUBMB life
Predicting phenotypes and complex traits from genomic variations has always been a big challenge in molecular biology, at least in part because the task is often complicated by the influences of external stimuli and the environment on regulation of g...

Facial features of lysosomal storage disorders.

Expert review of endocrinology & metabolism
INTRODUCTION: The use of facial recognition technology has diversified the diagnostic toolbelt for clinicians and researchers for the accurate diagnoses of patients with rare and challenging disorders. Specific identifiers in patient images can be gr...