AIMC Topic: Phenotype

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Generalized Zero-Shot Chest X-Ray Diagnosis Through Trait-Guided Multi-View Semantic Embedding With Self-Training.

IEEE transactions on medical imaging
Zero-shot learning (ZSL) is one of the most promising avenues of annotation-efficient machine learning. In the era of deep learning, ZSL techniques have achieved unprecedented success. However, the developments of ZSL methods have taken place mostly ...

Evolutionarily informed machine learning enhances the power of predictive gene-to-phenotype relationships.

Nature communications
Inferring phenotypic outcomes from genomic features is both a promise and challenge for systems biology. Using gene expression data to predict phenotypic outcomes, and functionally validating the genes with predictive powers are two challenges we add...

Analyses of child cardiometabolic phenotype following assisted reproductive technologies using a pragmatic trial emulation approach.

Nature communications
Assisted reproductive technologies (ART) are increasingly used, however little is known about the long-term health of ART-conceived offspring. Weak selection of comparison groups and poorly characterized mechanisms impede current understanding. In a ...

Deep GONet: self-explainable deep neural network based on Gene Ontology for phenotype prediction from gene expression data.

BMC bioinformatics
BACKGROUND: With the rapid advancement of genomic sequencing techniques, massive production of gene expression data is becoming possible, which prompts the development of precision medicine. Deep learning is a promising approach for phenotype predict...

Learning, visualizing and exploring 16S rRNA structure using an attention-based deep neural network.

PLoS computational biology
Recurrent neural networks with memory and attention mechanisms are widely used in natural language processing because they can capture short and long term sequential information for diverse tasks. We propose an integrated deep learning model for micr...

GenNet framework: interpretable deep learning for predicting phenotypes from genetic data.

Communications biology
Applying deep learning in population genomics is challenging because of computational issues and lack of interpretable models. Here, we propose GenNet, a novel open-source deep learning framework for predicting phenotypes from genetic variants. In th...

Genetic dissection of complex traits using hierarchical biological knowledge.

PLoS computational biology
Despite the growing constellation of genetic loci linked to common traits, these loci have yet to account for most heritable variation, and most act through poorly understood mechanisms. Recent machine learning (ML) systems have used hierarchical bio...

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 ...