AIMC Topic: Polymorphism, Single Nucleotide

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Functional fine-mapping of noncoding risk variants in amyotrophic lateral sclerosis utilizing convolutional neural network.

Scientific reports Jul 30, 2020
Recent large-scale genome-wide association studies have identified common genetic variations that may contribute to the risk of amyotrophic lateral sclerosis (ALS). However, pinpointing the risk variants in noncoding regions and underlying biological...
Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 3 Genetic Predisposition to Disease Polymorphism, Single Nucleotide Amyotrophic Lateral Sclerosis Humans Neural Networks, Computer Genome-Wide Association Study
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An enhanced machine learning tool for cis-eQTL mapping with regularization and confounder adjustments.

Genetic epidemiology Jul 22, 2020
Many expression quantitative trait loci (eQTL) studies have been conducted to investigate the biological effects of variants in gene regulation. However, these eQTL studies may suffer from low or moderate statistical power and overly conservative fal...
Humans Machine Learning Polymorphism, Single Nucleotide Genotype Models, Genetic Gene Expression Regulation Algorithms Phenotype Gene Expression Profiling Quantitative Trait Loci Confounding Factors, Epidemiologic
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Predicting breast cancer risk using interacting genetic and demographic factors and machine learning.

Scientific reports Jul 6, 2020
Breast cancer (BC) is a multifactorial disease and the most common cancer in women worldwide. We describe a machine learning approach to identify a combination of interacting genetic variants (SNPs) and demographic risk factors for BC, especially fac...
Risk Factors Machine Learning Breast Neoplasms Algorithms Polymorphism, Single Nucleotide Humans Databases, Factual Genetic Predisposition to Disease Databases, Genetic Female Demography Epistasis, Genetic
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Realistic simulation of virtual multi-scale, multi-modal patient trajectories using Bayesian networks and sparse auto-encoders.

Scientific reports Jul 3, 2020
Translational research of many disease areas requires a longitudinal understanding of disease development and progression across all biologically relevant scales. Several corresponding studies are now available. However, to compile a comprehensive pi...
Computer Simulation Disease Progression Deep Learning User-Computer Interface Humans Databases, Factual Brain Models, Statistical Bayes Theorem Translational Research, Biomedical Alzheimer Disease Cohort Studies Polymorphism, Single Nucleotide Longitudinal Studies Parkinson Disease
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Predicting haplogroups using a versatile machine learning program (PredYMaLe) on a new mutationally balanced 32 Y-STR multiplex (CombYplex): Unlocking the full potential of the human STR mutation rate spectrum to estimate forensic parameters.

Forensic science international. Genetics Jun 29, 2020
We developed a new mutationally well-balanced 32 Y-STR multiplex (CombYplex) together with a machine learning (ML) program PredYMaLe to assess the impact of STR mutability on haplogourp prediction, while respecting forensic community criteria (high D...
Chromosomes, Human, Y Microsatellite Repeats Forensic Genetics DNA Fingerprinting Multiplex Polymerase Chain Reaction Polymorphism, Single Nucleotide Haplotypes Mutation Rate Humans Machine Learning Male
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Comparison and development of machine learning tools for the prediction of chronic obstructive pulmonary disease in the Chinese population.

Journal of translational medicine Mar 31, 2020
BACKGROUND: Chronic obstructive pulmonary disease (COPD) is a major public health problem and cause of mortality worldwide. However, COPD in the early stage is usually not recognized and diagnosed. It is necessary to establish a risk model to predict...
Pulmonary Disease, Chronic Obstructive Humans China Machine Learning Polymorphism, Single Nucleotide
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Artificial Intelligence and Machine learning based prediction of resistant and susceptible mutations in Mycobacterium tuberculosis.

Scientific reports Mar 26, 2020
Tuberculosis (TB), an infectious disease caused by Mycobacterium tuberculosis (M.tb), causes highest number of deaths globally for any bacterial disease necessitating novel diagnosis and treatment strategies. High-throughput sequencing methods genera...
Molecular Docking Simulation Drug Resistance, Multiple, Bacterial Polymorphism, Single Nucleotide Bayes Theorem Bacterial Proteins Mutation Tuberculosis, Multidrug-Resistant Humans Artificial Intelligence Machine Learning Algorithms Molecular Dynamics Simulation Genes, MDR Mycobacterium tuberculosis Genes, Bacterial
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Application of Artificial Neural Network for Prediction of Risk of Multiple Sclerosis Based on Single Nucleotide Polymorphism Genotypes.

Journal of molecular neuroscience : MN Mar 9, 2020
The artificial neural network (ANN) is a sort of machine learning method which has been used in determination of risk of human disorders. In the current investigation, we have created an ANN and trained it based on the genetic data of 401 multiple sc...
Female Adult Male Genome-Wide Association Study Polymorphism, Single Nucleotide Genotype Multiple Sclerosis Humans Neural Networks, Computer Software
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Prediction of Side Effects Using Comprehensive Similarity Measures.

BioMed research international Feb 27, 2020
Identifying the potential side effects of drugs is crucial in clinical trials in the pharmaceutical industry. The existing side effect prediction methods mainly focus on the chemical and biological properties of drugs. This study proposes a method th...
Sitagliptin Phosphate Drug Repositioning Humans Dasatinib Area Under Curve Vorinostat Machine Learning Drug Interactions Clonidine Polymorphism, Single Nucleotide Drug-Related Side Effects and Adverse Reactions
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Machine learning on genome-wide association studies to predict the risk of radiation-associated contralateral breast cancer in the WECARE Study.

PloS one Feb 27, 2020
The purpose of this study was to identify germline single nucleotide polymorphisms (SNPs) that optimally predict radiation-associated contralateral breast cancer (RCBC) and to provide new biological insights into the carcinogenic process. Fifty-two w...
Breast Neoplasms Case-Control Studies Germ Cells Polymorphism, Single Nucleotide Genome-Wide Association Study Neoplasms, Radiation-Induced Risk Factors Humans Genotype Cohort Studies Young Adult Cancer Survivors Machine Learning Adult Female
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