Maturation and application of phenome-wide association studies. [PDF]
Trends Genet, 2022 In the past 10 years since its introduction, phenome-wide association studies (PheWAS) have uncovered novel genotype-phenotype relationships. Along the way, PheWAS have evolved in many aspects as a study design with the expanded availability of large ...
Liu S, Crawford DC.
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The challenges, advantages and future of phenome-wide association studies. [PDF]
Immunology, 2014 Over 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
Hebbring SJ.
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Phenome-Wide Association Studies as a Tool to Advance Precision Medicine. [PDF]
Annu Rev Genomics Hum Genet, 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.
Denny JC, Bastarache L, Roden DM.
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DeepPheWAS: an R package for phenotype generation and association analysis for phenome-wide association studies. [PDF]
Bioinformatics, 2023 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 ...
Packer RJ +15 more
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Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record. [PDF]
PLoS One, 2017 Objective To compare three groupings of Electronic Health Record (EHR) billing codes for their ability to represent clinically meaningful phenotypes and to replicate known genetic associations.
Wei WQ +8 more
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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.
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Phenome-wide association studies (PheWASs) for functional variants. [PDF]
Eur J Hum Genet, 2015 The genome-wide association study (GWAS) is a powerful approach for studying the genetic complexities of human disease. Unfortunately, GWASs often fail to identify clinically significant associations and describing function can be a challenge. GWAS is a phenotype-to-genotype approach.
Ye Z +8 more
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Multi-ancestry genome- and phenome-wide association studies of diverticular disease in electronic health records with natural language processing enriched phenotyping algorithm. [PDF]
PLoS One, 2023 Objective Diverticular disease (DD) is one of the most prevalent conditions encountered by gastroenterologists, affecting ~50% of Americans before the age of 60.
Joo YY +24 more
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R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment. [PDF]
Bioinformatics, 2014 Carroll RJ, Bastarache L, Denny JC.
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Using phenome-wide association studies and the SF-12 quality of life metric to identify profound consequences of adverse childhood experiences on adult mental and physical health in a Northern Nevadan population. [PDF]
Front Psychiatry, 2022 In this research, we examine and identify the implications of Adverse Childhood Experiences (ACEs) on a range of health outcomes, with particular focus on a number of mental health disorders. Many previous studies observed that traumatic childhood events
Schlauch KA +4 more
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