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Multifactorial Inheritance

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Using game theory and decision decomposition to effectively discern and characterise bi-locus diseases.

Artificial intelligence in medicine
In order to gain insight into oligogenic disorders, understanding those involving bi-locus variant combinations appears to be key. In prior work, we showed that features at multiple biological scales can already be used to discriminate among two type...

Polygenic risk scores outperform machine learning methods in predicting coronary artery disease status.

Genetic epidemiology
Coronary artery disease (CAD) is the leading global cause of mortality and has substantial heritability with a polygenic architecture. Recent approaches of risk prediction were based on polygenic risk scores (PRS) not taking possible nonlinear effect...

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...

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...

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...

Deep neural network improves the estimation of polygenic risk scores for breast cancer.

Journal of human genetics
Polygenic risk scores (PRS) estimate the genetic risk of an individual for a complex disease based on many genetic variants across the whole genome. In this study, we compared a series of computational models for estimation of breast cancer PRS. A de...

Epistasis Analysis: Classification Through Machine Learning Methods.

Methods in molecular biology (Clifton, N.J.)
Complex disease is different from Mendelian disorders. Its development usually involves the interaction of multiple genes or the interaction between genes and the environment (i.e. epistasis). Although the high-throughput sequencing technologies for ...

A Belief Degree-Associated Fuzzy Multifactor Dimensionality Reduction Framework for Epistasis Detection.

Methods in molecular biology (Clifton, N.J.)
Epistasis is a challenge in prediction, classification, and suspicion of human genetic diseases. Many technologies, methods, and tools have been developed for epistasis detection. Multifactor dimensionality reduction (MDR) is the method commonly used...

Discriminating Heterogeneous Trajectories of Resilience and Depression After Major Life Stressors Using Polygenic Scores.

JAMA psychiatry
IMPORTANCE: Major life stressors, such as loss and trauma, increase the risk of depression. It is known that individuals show heterogeneous trajectories of depressive symptoms following major life stressors, including chronic depression, recovery, an...

Translating polygenic risk scores for clinical use by estimating the confidence bounds of risk prediction.

Nature communications
A promise of genomics in precision medicine is to provide individualized genetic risk predictions. Polygenic risk scores (PRS), computed by aggregating effects from many genomic variants, have been developed as a useful tool in complex disease resear...