Phenome-Wide Association Studies [PDF]
JAMA - Journal of the American Medical Association, 2022 Josh Denny +2 more
exaly +5 more sources
The challenges, advantages and future of phenome‐wide association studies [PDF]
Immunology, 2014 SummaryOver the last decade, significant technological breakthroughs have revolutionized human genomic research in the form of genome‐wide association studies (GWASs). GWASs have identified thousands of statistically significant genetic variants associated with hundreds of human conditions including many with immunological aetiologies (e.g.
Scott Hebbring
exaly +4 more sources
Phenome-Wide Association Studies as a Tool to Advance Precision Medicine [PDF]
Annual Review of Genomics and Human Genetics, 2016 Beginning in the early 2000s, the accumulation of biospecimens linked to electronic health records (EHRs) made possible genome-phenome studies (i.e., comparative analyses of genetic variants and phenotypes) using only data collected as a by-product of typical health care.
Josh Denny +2 more
exaly +5 more sources
Phenome-Wide Association Studies: Leveraging Comprehensive Phenotypic and Genotypic Data for Discovery [PDF]
Current Genetic Medicine Reports, 2015 With the large volume of clinical and epidemiological data being collected, increasingly linked to extensive genotypic data, coupled with expanding high-performance computational resources, there are considerable opportunities for comprehensively exploring the networks of connections that exist between the phenome and the genome.
Marylyn D Ritchie, Ritchie Marylyn D
exaly +5 more sources
Integration of Genome‐Wide Association Studies With Single‐Cell and Bulk Expression Quantitative Trait Locus to Identify Stroke Susceptibility Genes [PDF]
Journal of the American Heart Association: Cardiovascular and Cerebrovascular DiseaseBackground Previous studies have integrated genome‐wide association studies with expression quantitative trait locus (eQTL) data from bulk tissues to identify stroke susceptibility genes. However, eQTL data exhibit high cell‐type specificity, and genetic
Yijie He +8 more
doaj +2 more sources
DeepPheWAS: an R package for phenotype generation and association analysis for phenome-wide association studies. [PDF]
Bioinformatics, 2023 Abstract Summary DeepPheWAS is an R package for phenome-wide association studies that creates clinically curated composite phenotypes and integrates quantitative phenotypes from primary care data, longitudinal trajectories of quantitative measures, disease progression and drug response ...
Packer RJ +15 more
europepmc +3 more sources
Current Scope and Challenges in Phenome-Wide Association Studies. [PDF]
Curr Epidemiol Rep, 2017 Over many decades, researchers have been designing studies to investigate the relationship between genotypes and phenotypes to gain an understanding about the effect of genetics on disease. Recently, a high-throughput approach called phenome-wide associations studies (PheWAS) have been extensively used to identify associations between genetic variants ...
Verma A, Ritchie MD.
europepmc +4 more sources
Methodology in phenome-wide association studies: a systematic review [PDF]
Journal of Medical Genetics, 2021 Phenome-wide association study (PheWAS) has been increasingly used to identify novel genetic associations across a wide spectrum of phenotypes. This systematic review aims to summarise the PheWAS methodology, discuss the advantages and challenges of PheWAS, and provide potential implications for future PheWAS studies.
Lijuan Wang +8 more
openaire +3 more sources
Joy of Ping-Pong: Genome-Wide and Phenome-Wide Association Studies. [PDF]
Allergy Asthma Immunol Res, 2020 Park HW.
europepmc +3 more sources
A phenome-wide association study of genetically mimicked statins [PDF]
BMC Medicine, 2021 Abstract Background Beyond their success in cardiovascular disease prevention, statins are increasingly recognized to have sex-specific pleiotropic effects. To gain additional insight, we characterized associations of genetically mimicked statins across the phenotype sex-specifically.
Shun Li, C. M. Schooling
openaire +3 more sources