AIMC Topic: Phenotype

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TRIOMPHE: Transcriptome-Based Inference and Generation of Molecules with Desired Phenotypes by Machine Learning.

Journal of chemical information and modeling
One of the most challenging tasks in the drug-discovery process is the efficient identification of small molecules with desired phenotypes. In this study, we propose a novel computational method for omics-based drug design, which we call TRIOMPHE (t...

Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network.

American journal of human genetics
Rare diseases affect millions of people worldwide, and discovering their genetic causes is challenging. More than half of the individuals analyzed by the Undiagnosed Diseases Network (UDN) remain undiagnosed. The central hypothesis of this work is th...

Multi-parametric MRI phenotype with trustworthy machine learning for differentiating CNS demyelinating diseases.

Journal of translational medicine
BACKGROUND: Misdiagnosis of multiple sclerosis (MS) and neuromyelitis optica (NMO) may delay the treatment, resulting in poor prognosis. However, the precise identification of these two diseases is still challenging in clinical practice. We aimed to ...

Magnetic Resonance Imaging Phenotypes of Breast Cancer Molecular Subtypes: A Systematic Review.

Academic radiology
OBJECTIVE: Magnetic resonance imaging (MRI) is the most sensitive imaging modality in detecting breast cancer. The purpose of this systematic review is to investigate the role of human extracted MRI phenotypes in classifying molecular subtypes of bre...

FordNet: Recommending traditional Chinese medicine formula via deep neural network integrating phenotype and molecule.

Pharmacological research
Traditional Chinese medicine (TCM) formula is widely used for thousands of years in clinical practice. With the development of artificial intelligence, deep learning models may help doctors prescribe reasonable formulas. Meanwhile, current studies of...

Multi-feature data repository development and analytics for image cosegmentation in high-throughput plant phenotyping.

PloS one
Cosegmentation is a newly emerging computer vision technique used to segment an object from the background by processing multiple images at the same time. Traditional plant phenotyping analysis uses thresholding segmentation methods which result in h...

Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study.

The Lancet. Digital health
BACKGROUND: Delays in the diagnosis of genetic syndromes are common, particularly in low and middle-income countries with limited access to genetic screening services. We, therefore, aimed to develop and evaluate a machine learning-based screening te...

Predicting phenotypes from genetic, environment, management, and historical data using CNNs.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik
Convolutional Neural Networks (CNNs) can perform similarly or better than standard genomic prediction methods when sufficient genetic, environmental, and management data are provided. Predicting phenotypes from genetic (G), environmental (E), and man...

NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.

Human genetics
Syndromic retinal diseases (SRDs) are a group of complex inherited systemic disorders, with challenging molecular underpinnings and clinical management. Our main goal is to improve clinical and molecular SRDs diagnosis, by applying a structured pheno...

Systematic Review of the Effectiveness of Machine Learning Algorithms for Classifying Pain Intensity, Phenotype or Treatment Outcomes Using Electroencephalogram Data.

The journal of pain
Recent attempts to utilize machine learning (ML) to predict pain-related outcomes from Electroencephalogram (EEG) data demonstrate promising results. The primary aim of this review was to evaluate the effectiveness of ML algorithms for predicting pai...