AIMC Topic: Genome-Wide Association Study

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The "GEnomics of Musculo Skeletal Traits TranslatiOnal NEtwork": Origins, Rationale, Organization, and Prospects.

Frontiers in endocrinology Aug 16, 2021
Musculoskeletal research has been enriched in the past ten years with a great wealth of new discoveries arising from genome wide association studies (GWAS). In addition to the novel factors identified by GWAS, the advent of whole-genome and whole-exo...
Musculoskeletal System Genome-Wide Association Study Humans Artificial Intelligence Genomics Phenotype Computational Biology Genetic Loci
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Prioritization of disease genes from GWAS using ensemble-based positive-unlabeled learning.

European journal of human genetics : EJHG Jul 19, 2021
A primary challenge in understanding disease biology from genome-wide association studies (GWAS) arises from the inability to directly implicate causal genes from association data. Integration of multiple-omics data sources potentially provides impor...
Humans Machine Learning Genome-Wide Association Study Quantitative Trait Loci Genetic Diseases, Inborn
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Prioritizing and characterizing functionally relevant genes across human tissues.

PLoS computational biology Jul 16, 2021
Knowledge of genes that are critical to a tissue's function remains difficult to ascertain and presents a major bottleneck toward a mechanistic understanding of genotype-phenotype links. Here, we present the first machine learning model-FUGUE-combini...
Software Female Male Neoplasms Humans Machine Learning Transcription Factors Multigene Family Genome, Human Tissue Distribution Gene Expression Regulation, Developmental Transcriptome Gene Regulatory Networks Genome-Wide Association Study Genetic Association Studies Protein Interaction Maps Computational Biology Models, Genetic
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Use of Deep-Learning Genomics to Discriminate Healthy Individuals from Those with Alzheimer's Disease or Mild Cognitive Impairment.

Behavioural neurology Jul 14, 2021
OBJECTIVES: Alzheimer's disease (AD) is the most prevalent neurodegenerative disorder and the most common form of dementia in the elderly. Certain genes have been identified as important clinical risk factors for AD, and technological advances in gen...
Alzheimer Disease Humans Cognitive Dysfunction Aged Genome-Wide Association Study Deep Learning Genomics Magnetic Resonance Imaging
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An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism.

Scientific reports Jul 7, 2021
Venous thromboembolism is the third common cardiovascular disease and is composed of two entities, deep vein thrombosis (DVT) and its potential fatal form, pulmonary embolism (PE). While PE is observed in ~ 40% of patients with documented DVT, there ...
Male Humans Genome-Wide Association Study Proteomics Phenotype Pulmonary Embolism Neural Networks, Computer Genetic Predisposition to Disease Female Receptors, Cell Surface Polymorphism, Single Nucleotide COVID-19 Adult
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Machine learning based disease prediction from genotype data.

Biological chemistry Jul 5, 2021
Using results from genome-wide association studies for understanding complex traits is a current challenge. Here we review how genotype data can be used with different machine learning (ML) methods to predict phenotype occurrence and severity from ge...
Neural Networks, Computer Machine Learning Genome-Wide Association Study Genotype Humans
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Machine-learning predicts genomic determinants of meiosis-driven structural variation in a eukaryotic pathogen.

Nature communications Jun 10, 2021
Species harbor extensive structural variation underpinning recent adaptive evolution. However, the causality between genomic features and the induction of new rearrangements is poorly established. Here, we analyze a global set of telomere-to-telomere...
Genetic Variation Polymorphism, Genetic Ascomycota Machine Learning Pedigree Crossing Over, Genetic Genes, Duplicate Meiosis Sequence Inversion Computer Simulation Chromosomes Genomics Eukaryota Phylogeny Polymorphism, Single Nucleotide Arabidopsis Genome Genome-Wide Association Study Models, Genetic Retroelements INDEL Mutation Evolution, Molecular
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Automated AI labeling of optic nerve head enables insights into cross-ancestry glaucoma risk and genetic discovery in >280,000 images from UKB and CLSA.

American journal of human genetics Jun 1, 2021
Cupping of the optic nerve head, a highly heritable trait, is a hallmark of glaucomatous optic neuropathy. Two key parameters are vertical cup-to-disc ratio (VCDR) and vertical disc diameter (VDD). However, manual assessment often suffers from poor a...
Photography Inheritance Patterns Image Processing, Computer-Assisted Polymorphism, Single Nucleotide Optic Disk Nerve Net Male Middle Aged Genome-Wide Association Study Glaucoma Artificial Intelligence Humans Algorithms Risk Factors Aged Female Adult Intraocular Pressure
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Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology.

American journal of human genetics Jun 1, 2021
Genome-wide association studies (GWASs) require accurate cohort phenotyping, but expert labeling can be costly, time intensive, and variable. Here, we develop a machine learning (ML) model to predict glaucomatous optic nerve head features from color ...
Glaucoma, Open-Angle Optic Disk Fluorescein Angiography Models, Anatomic Humans Machine Learning Phenotype Risk Assessment Genome-Wide Association Study Datasets as Topic
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Improving brain age estimates with deep learning leads to identification of novel genetic factors associated with brain aging.

Neurobiology of aging Apr 20, 2021
To study genetic factors associated with brain aging, we first need to quantify brain aging. Statistical models have been created for estimating the apparent age of the brain, or predicted brain age (PBA), using imaging data. Recent studies have refi...
Brain Genome-Wide Association Study Female Male Polymorphism, Single Nucleotide Aged Aging Humans Life Style Aged, 80 and over Middle Aged Neural Networks, Computer Deep Learning
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