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Genotype

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PharmGKB, an Integrated Resource of Pharmacogenomic Knowledge.

Current protocols
The Pharmacogenomics Knowledgebase (PharmGKB) is an integrated online knowledge resource for the understanding of how genetic variation contributes to variation in drug response. Our focus includes not only pharmacogenomic information useful for clin...

Varmole: a biologically drop-connect deep neural network model for prioritizing disease risk variants and genes.

Bioinformatics (Oxford, England)
SUMMARY: Population studies such as genome-wide association study have identified a variety of genomic variants associated with human diseases. To further understand potential mechanisms of disease variants, recent statistical methods associate funct...

Heuristic hyperparameter optimization of deep learning models for genomic prediction.

G3 (Bethesda, Md.)
There is a growing interest among quantitative geneticists and animal breeders in the use of deep learning (DL) for genomic prediction. However, the performance of DL is affected by hyperparameters that are typically manually set by users. These hype...

Clinical Performance of a Gene-Based Machine Learning Classifier in Assessing Risk of Developing OUD in Subjects Taking Oral Opioids: A Prospective Observational Study.

Annals of clinical and laboratory science
OBJECTIVE: To reduce the incidence of Opioid Use Disorder (OUD), multiple guidelines recommend assessing the risk of OUD prior to prescribing oral opioids. Although subjective risk assessments are available to help classify subjects at risk for OUD, ...

Application of deep learning methods in biological networks.

Briefings in bioinformatics
The increase in biological data and the formation of various biomolecule interaction databases enable us to obtain diverse biological networks. These biological networks provide a wealth of raw materials for further understanding of biological system...

The Human Phenotype Ontology in 2021.

Nucleic acids research
The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for ...

Epistasis Detection Based on Epi-GTBN.

Methods in molecular biology (Clifton, N.J.)
Epistasis detection is a hot topic in bioinformatics due to its relevance to the detection of specific phenotypic traits and gene-gene interactions. Here, we present a step-by-step protocol to apply Epi-GTBN, a machine learning-based method based on ...

Protocol for Epistasis Detection with Machine Learning Using GenEpi Package.

Methods in molecular biology (Clifton, N.J.)
To develop medical treatments and prevention, the association between disease and genetic variants needs to be identified. The main goal of genome-wide association study (GWAS) is to discover the underlying reason for vulnerability to disease and uti...

[Prevalence of transmitted drug resistance in HIV-infected treatment-naive patients in Chile].

Revista medica de Chile
BACKGROUND: Transmitted drug resistance (TDR) occurs in patients with HIV infection who are not exposed to antiretroviral drugs but who are infected with a virus with mutations associated with resistance.

Genome-wide prediction for complex traits under the presence of dominance effects in simulated populations using GBLUP and machine learning methods.

Journal of animal science
The aim of this study was to compare the predictive performance of the Genomic Best Linear Unbiased Predictor (GBLUP) and machine learning methods (Random Forest, RF; Support Vector Machine, SVM; Artificial Neural Network, ANN) in simulated populatio...