AIMC Topic: Phenotype

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Machine learning, the kidney, and genotype-phenotype analysis.

Kidney international
With biomedical research transitioning into data-rich science, machine learning provides a powerful toolkit for extracting knowledge from large-scale biological data sets. The increasing availability of comprehensive kidney omics compendia (transcrip...

Dimensionality reduction reveals fine-scale structure in the Japanese population with consequences for polygenic risk prediction.

Nature communications
The diversity in our genome is crucial to understanding the demographic history of worldwide populations. However, we have yet to know whether subtle genetic differences within a population can be disentangled, or whether they have an impact on compl...

Standard machine learning approaches outperform deep representation learning on phenotype prediction from transcriptomics data.

BMC bioinformatics
BACKGROUND: The ability to confidently predict health outcomes from gene expression would catalyze a revolution in molecular diagnostics. Yet, the goal of developing actionable, robust, and reproducible predictive signatures of phenotypes such as cli...

Unsupervised Machine Learning Reveals Novel Traumatic Brain Injury Patient Phenotypes with Distinct Acute Injury Profiles and Long-Term Outcomes.

Journal of neurotrauma
The heterogeneity of traumatic brain injury (TBI) remains a core challenge for the success of interventional clinical trials. Data-driven approaches for patient stratification may help to identify TBI patient phenotypes during the acute injury period...

Artificial neural networks allow response prediction in squamous cell carcinoma of the scalp treated with radiotherapy.

Journal of the European Academy of Dermatology and Venereology : JEADV
BACKGROUND: Epithelial neoplasms of the scalp account for approximately 2% of all skin cancers and for about 10-20% of the tumours affecting the head and neck area. Radiotherapy is suggested for localized cutaneous squamous cell carcinomas (cSCC) wit...

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...