AIMC Topic: Phenotype

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Collective effects of long-range DNA methylations predict gene expressions and estimate phenotypes in cancer.

Scientific reports
DNA methylation of various genomic regions has beenĀ found to be associated with gene expression in diverse biological contexts. However, most genome-wide studies have focused on the effect of (1) methylation in cis, not in trans and (2) a single CpG,...

An Application of Machine Learning in Pharmacovigilance: Estimating Likely Patient Genotype From Phenotypical Manifestations of Fluoropyrimidine Toxicity.

Clinical pharmacology and therapeutics
Dihydropyrimidine dehydrogenase (DPD)-deficient patients might only become aware of their genotype after exposure to dihydropyrimidines, if testing is performed. Case reports to pharmacovigilance databases might only contain phenotypical manifestatio...

Network modeling of patients' biomolecular profiles for clinical phenotype/outcome prediction.

Scientific reports
Methods for phenotype and outcome prediction are largely based on inductive supervised models that use selected biomarkers to make predictions, without explicitly considering the functional relationships between individuals. We introduce a novel netw...

GenEpi: gene-based epistasis discovery using machine learning.

BMC bioinformatics
BACKGROUND: Genome-wide association studies (GWAS) provide a powerful means to identify associations between genetic variants and phenotypes. However, GWAS techniques for detecting epistasis, the interactions between genetic variants associated with ...

Deep learning versus parametric and ensemble methods for genomic prediction of complex phenotypes.

Genetics, selection, evolution : GSE
BACKGROUND: Transforming large amounts of genomic data into valuable knowledge for predicting complex traits has been an important challenge for animal and plant breeders. Prediction of complex traits has not escaped the current excitement on machine...

Scanning electron microscopy and machine learning reveal heterogeneity in capsular morphotypes of the human pathogen Cryptococcus spp.

Scientific reports
Phenotypic heterogeneity is an important trait for the development and survival of many microorganisms including the yeast Cryptococcus spp., a deadly pathogen spread worldwide. Here, we have applied scanning electron microscopy (SEM) to define four ...

Machine learning models for net photosynthetic rate prediction using poplar leaf phenotype data.

PloS one
BACKGROUND: As an essential component in reducing anthropogenic CO2 emissions to the atmosphere, tree planting is the key to keeping carbon dioxide emissions under control. In 1992, the United Nations agreed to take action at the Earth Summit to stab...

Combining deep learning with token selection for patient phenotyping from electronic health records.

Scientific reports
Artificial intelligence provides the opportunity to reveal important information buried in large amounts of complex data. Electronic health records (eHRs) are a source of such big data that provide a multitude of health related clinical information a...

Depression phenotype identified by using single nucleotide exact amplicon sequence variants of the human gut microbiome.

Molecular psychiatry
Single nucleotide exact amplicon sequence variants (ASV) of the human gut microbiome were used to evaluate if individuals with a depression phenotype (DEPR) could be identified from healthy reference subjects (NODEP). Microbial DNA in stool samples o...