AIMC Topic: Linkage Disequilibrium
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Ensemble of machine learning algorithms using the stacked generalization approach to estimate the warfarin dose.
PloS one
Oct 19, 2018
Warfarin dosing remains challenging due to narrow therapeutic index and highly individual variability. Incorrect warfarin dosing is associated with devastating adverse events. Remarkable efforts have been made to develop the machine learning based wa...
Hemorrhage
Humans
Drug Administration Schedule
Multivariate Analysis
International Cooperation
Aged
Machine Learning
Aged, 80 and over
Linkage Disequilibrium
Genotype
Algorithms
Male
Medical Errors
Anticoagulants
Middle Aged
Vitamin K Epoxide Reductases
Databases, Factual
Warfarin
Pharmacogenetics
Female
Thrombosis
Cohort Studies
Polymorphism, Single Nucleotide
An unsupervised machine learning method for discovering patient clusters based on genetic signatures.
Journal of biomedical informatics
Jul 29, 2018
INTRODUCTION: Many chronic disorders have genomic etiology, disease progression, clinical presentation, and response to treatment that vary on a patient-to-patient basis. Such variability creates a need to identify characteristics within patient popu...
Selection plays the hand it was dealt: evidence that human adaptation commonly targets standing genetic variation.
Genome biology
Aug 1, 2017
Using a powerful machine learning approach, a recent study of human genomes has revealed widespread footprints of recent positive selection on standing genetic variation.
Methylomes Reveal Recent Evolutionary Changes in Populations of Two Plant Species.
Genome biology and evolution
May 30, 2025
Plant DNA methylation changes occur hundreds to thousands of times faster than DNA mutations and can be transmitted transgenerationally, making them useful for studying population-scale patterns in clonal or selfing species. However, a state-of-the-a...
DeepPerVar: a multi-modal deep learning framework for functional interpretation of genetic variants in personal genome.
Bioinformatics (Oxford, England)
Dec 13, 2022
MOTIVATION: Understanding the functional consequence of genetic variants, especially the non-coding ones, is important but particularly challenging. Genome-wide association studies (GWAS) or quantitative trait locus analyses may be subject to limited...
Deep learning model reveals potential risk genes for ADHD, especially Ephrin receptor gene EPHA5.
Briefings in bioinformatics
Nov 5, 2021
Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder. Although genome-wide association studies (GWAS) identify the risk ADHD-associated variants and genes with significant P-values, they may neglect the combined eff...
Revisiting genome-wide association studies from statistical modelling to machine learning.
Briefings in bioinformatics
Jul 20, 2021
Over the last decade, genome-wide association studies (GWAS) have discovered thousands of genetic variants underlying complex human diseases and agriculturally important traits. These findings have been utilized to dissect the biological basis of dis...
Predicting regulatory variants using a dense epigenomic mapped CNN model elucidated the molecular basis of trait-tissue associations.
Nucleic acids research
Jan 11, 2021
Assessing the causal tissues of human complex diseases is important for the prioritization of trait-associated genetic variants. Yet, the biological underpinnings of trait-associated variants are extremely difficult to infer due to statistical noise ...
Binding Sites
Linkage Disequilibrium
Genetic Diseases, Inborn
Chromatin Immunoprecipitation
Epigenome
Datasets as Topic
Organ Specificity
Molecular Sequence Annotation
Histone Code
Humans
Deep Learning
Genome-Wide Association Study
Polymorphism, Single Nucleotide
Epigenomics
Models, Genetic
Transcription Factors
Causality
TAGOOS: genome-wide supervised learning of non-coding loci associated to complex phenotypes.
Nucleic acids research
Aug 22, 2019
Genome-wide association studies (GWAS) associate single nucleotide polymorphisms (SNPs) to complex phenotypes. Most human SNPs fall in non-coding regions and are likely regulatory SNPs, but linkage disequilibrium (LD) blocks make it difficult to dist...
The drug target genes show higher evolutionary conservation than non-target genes.
Oncotarget
Jan 26, 2016
Although evidence indicates that drug target genes share some common evolutionary features, there have been few studies analyzing evolutionary features of drug targets from an overall level. Therefore, we conducted an analysis which aimed to investig...
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