AIMC Topic: Phenotype

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Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology.

American journal of human genetics Jun 1, 2021
Genome-wide association studies (GWASs) require accurate cohort phenotyping, but expert labeling can be costly, time intensive, and variable. Here, we develop a machine learning (ML) model to predict glaucomatous optic nerve head features from color ...
Machine Learning Phenotype Risk Assessment Humans Fluorescein Angiography Models, Anatomic Glaucoma, Open-Angle Genome-Wide Association Study Datasets as Topic Optic Disk
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Blood Biomarkers Predict Cardiac Workload Using Machine Learning.

BioMed research international Jun 1, 2021
INTRODUCTION: Rate pressure product (the product of heart rate and systolic blood pressure) is a measure of cardiac workload. Resting rate pressure product (rRPP) varies from one individual to the next, but its biochemical/cellular phenotype remains ...
Heart Rate Linear Models Systole Predictive Value of Tests Blood Pressure Female Cardiovascular System Algorithms Heart Adult Middle Aged Phenotype Male Humans China Biomarkers Machine Learning Neutrophils
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Image-based cell phenotyping with deep learning.

Current opinion in chemical biology May 21, 2021
A cell's phenotype is the culmination of several cellular processes through a complex network of molecular interactions that ultimately result in a unique morphological signature. Visual cell phenotyping is the characterization and quantification of ...
Deep Learning Diagnostic Imaging Phenotype
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Protein design and variant prediction using autoregressive generative models.

Nature communications Apr 23, 2021
The ability to design functional sequences and predict effects of variation is central to protein engineering and biotherapeutics. State-of-art computational methods rely on models that leverage evolutionary information but are inadequate for importa...
Humans Amino Acid Sequence Proteins Neural Networks, Computer Phenotype Mutation Antigens Genotype Algorithms Antibodies Protein Engineering Computational Biology
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Eye-color and Type-2 diabetes phenotype prediction from genotype data using deep learning methods.

BMC bioinformatics Apr 19, 2021
BACKGROUND: Genotype-phenotype predictions are of great importance in genetics. These predictions can help to find genetic mutations causing variations in human beings. There are many approaches for finding the association which can be broadly catego...
Eye Color Diabetes Mellitus, Type 2 Genotype Humans Phenotype Deep Learning
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Accurate cancer phenotype prediction with AKLIMATE, a stacked kernel learner integrating multimodal genomic data and pathway knowledge.

PLoS computational biology Apr 16, 2021
Advancements in sequencing have led to the proliferation of multi-omic profiles of human cells under different conditions and perturbations. In addition, many databases have amassed information about pathways and gene "signatures"-patterns of gene ex...
Neoplasms Cell Line, Tumor Genomics Humans Machine Learning Phenotype RNA, Small Interfering Survival Analysis Gene Knockdown Techniques
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Evaluating the performance of machine learning methods and variable selection methods for predicting difficult-to-measure traits in Holstein dairy cattle using milk infrared spectral data.

Journal of dairy science Apr 15, 2021
Fourier-transform infrared (FTIR) spectroscopy is a powerful high-throughput phenotyping tool for predicting traits that are expensive and difficult to measure in dairy cattle. Calibration equations are often developed using standard methods, such as...
Female Animals Cattle Spectroscopy, Fourier Transform Infrared Milk 3-Hydroxybutyric Acid Machine Learning Phenotype
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Predicting cell invasion in breast tumor microenvironment from radiological imaging phenotypes.

BMC cancer Apr 7, 2021
BACKGROUND: The abundance of immune and stromal cells in the tumor microenvironment (TME) is informative of levels of inflammation, angiogenesis, and desmoplasia. Radiomics, an approach of extracting quantitative features from radiological imaging to...
Humans Machine Learning Phenotype Tumor Microenvironment Middle Aged Neoplasm Invasiveness Retrospective Studies Female Breast Neoplasms
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Distinguishing between recent balancing selection and incomplete sweep using deep neural networks.

Molecular ecology resources Apr 5, 2021
Balancing selection is an important adaptive mechanism underpinning a wide range of phenotypes. Despite its relevance, the detection of recent balancing selection from genomic data is challenging as its signatures are qualitatively similar to those l...
Neural Networks, Computer Haplotypes Phenotype Metagenomics Genomics
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Evaluation of supervised machine-learning methods for predicting appearance traits from DNA.

Forensic science international. Genetics Mar 23, 2021
The prediction of human externally visible characteristics (EVCs) based solely on DNA information has become an established approach in forensic and anthropological genetics in recent years. While for a large set of EVCs, predictive models have alrea...
Forensic Genetics Hair Color Eye Color Genetic Markers Datasets as Topic Algorithms Skin Pigmentation Phenotype Logistic Models Polymorphism, Single Nucleotide Humans DNA Machine Learning
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