AIMC Topic: Multifactorial Inheritance

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Genetic dissection of complex traits using hierarchical biological knowledge.

PLoS computational biology Sep 17, 2021
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...
Systems Biology Models, Genetic Metabolic Networks and Pathways Copper Genome-Wide Association Study Polymorphism, Single Nucleotide Computational Biology Knowledge Bases Saccharomyces cerevisiae Gene Ontology Hydroxyurea Mutation Glucose Glycine Neural Networks, Computer Machine Learning Phenotype Nucleotidyltransferases Chromosome Mapping Multifactorial Inheritance Benomyl
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Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network.

American journal of human genetics Sep 15, 2021
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...
Genomics Databases, Genetic Humans Rare Diseases Disease Machine Learning Multifactorial Inheritance Phenotype Undiagnosed Diseases
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Translating polygenic risk scores for clinical use by estimating the confidence bounds of risk prediction.

Nature communications Sep 6, 2021
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...
Reproducibility of Results Sweden Breast Neoplasms Male Machine Learning Inflammatory Bowel Diseases Female Schizophrenia Humans Diabetes Mellitus, Type 2 Biological Specimen Banks Genetic Predisposition to Disease United Kingdom Age Factors Multifactorial Inheritance Coronary Artery Disease
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Deep neural network improves the estimation of polygenic risk scores for breast cancer.

Journal of human genetics Oct 2, 2020
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...
ROC Curve Genetic Predisposition to Disease Polymorphism, Single Nucleotide Multifactorial Inheritance Breast Neoplasms Biomarkers, Tumor Case-Control Studies Phenotype Genome-Wide Association Study Female Risk Factors Humans Neural Networks, Computer Algorithms
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Dimensionality reduction reveals fine-scale structure in the Japanese population with consequences for polygenic risk prediction.

Nature communications Mar 26, 2020
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...
Humans Base Sequence Multifactor Dimensionality Reduction Multifactorial Inheritance Genetics, Population Principal Component Analysis Asian People Biological Specimen Banks Japan Phenotype Risk Factors Genetic Predisposition to Disease
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Deep learning versus parametric and ensemble methods for genomic prediction of complex phenotypes.

Genetics, selection, evolution : GSE Feb 24, 2020
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...
Animals Polymorphism, Single Nucleotide Bayes Theorem Genotype Phenotype Deep Learning Quantitative Trait, Heritable Models, Genetic Cattle Multifactorial Inheritance Genomics
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Polygenic risk scores outperform machine learning methods in predicting coronary artery disease status.

Genetic epidemiology Jan 10, 2020
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...
Probability Humans Multifactorial Inheritance Machine Learning Databases, Genetic Genetic Predisposition to Disease ROC Curve Models, Genetic Bayes Theorem Support Vector Machine Coronary Artery Disease Benchmarking
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Using game theory and decision decomposition to effectively discern and characterise bi-locus diseases.

Artificial intelligence in medicine Jul 23, 2019
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...
Humans Machine Learning Genetic Predisposition to Disease Decision Trees Game Theory Multifactorial Inheritance
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A Guide for Using Deep Learning for Complex Trait Genomic Prediction.

Genes Jul 20, 2019
Deep learning (DL) has emerged as a powerful tool to make accurate predictions from complex data such as image, text, or video. However, its ability to predict phenotypic values from molecular data is less well studied. Here, we describe the theoreti...
Multifactorial Inheritance Deep Learning Models, Genetic Genetic Code Software
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Can Deep Learning Improve Genomic Prediction of Complex Human Traits?

Genetics Aug 31, 2018
The genetic analysis of complex traits does not escape the current excitement around artificial intelligence, including a renewed interest in "deep learning" (DL) techniques such as Multilayer Perceptrons (MLPs) and Convolutional Neural Networks (CNN...
Genomics Genotype Linear Models Humans Multifactorial Inheritance Software Deep Learning
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