Results 1 to 10 of about 6,040 (161)

Phenome-Wide Association Study (PheWAS) for Detection of Pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network [PDF]

PLoS Genetics, 2013
Using a phenome-wide association study (PheWAS) approach, we comprehensively tested genetic variants for association with phenotypes available for 70,061 study participants in the Population Architecture using Genomics and Epidemiology (PAGE) network ...
Sarah Pendergrass, Jose-Luis Ambite, Christy L Avery   +2 more
exaly   +9 more sources

Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts [PDF]

Frontiers in Genetics, 2014
Objective: We report the first pediatric specific Phenome-Wide Association Study (PheWAS) using electronic medical records (EMRs). Given the early success of PheWAS in adult populations, we investigated the feasibility of this approach in pediatric ...
Bahram eNamjou, Bahram eNamjou, Keith eMarsolo, Keith eMarsolo, Robert eCarroll, Joshua eDenny, Marylyn D Ritchie, shefali esetia, Todd eLingren, Todd eLingren, Aleksey ePorollo, Aleksey ePorollo, Aleksey ePorollo, Beth ecobb, Cassandra ePerry, Leah Claire Kottyan, Leah Claire Kottyan, Leah Claire Kottyan, Ingrid Adele Holm, Isaac eKohane, John Barker Harley, John Barker Harley, John Barker Harley, John Barker Harley   +23 more
doaj   +3 more sources

Visually integrating and exploring high throughput Phenome-Wide Association Study (PheWAS) results using PheWAS-View

BioData Mining, 2012
Background Phenome-Wide Association Studies (PheWAS) can be used to investigate the association between single nucleotide polymorphisms (SNPs) and a wide spectrum of phenotypes.
Sarah Pendergrass, Marylyn D Ritchie
exaly   +3 more sources

Genome‐Wide Meta‐Analysis of Parkinson's Disease Associated Genetic Loci and Validation of Therapeutic Targets [PDF]

Brain and Behavior
Background To identify genetic loci associated with Parkinson's disease (PD) through a genome‐wide meta‐analysis, to screen for druggable genes significantly linked to PD risk, and evaluate their potential as therapeutic targets. Methods Data from DGIdb,
Shan Yang, Qinfen Wu, Xinling Yang
doaj   +2 more sources

Clinical implications of bone marrow adiposity identified by phenome-wide association and Mendelian randomization in the UK Biobank [PDF]

Nature Communications
Bone marrow adiposity changes in diverse diseases, but the full scope of these, and whether they are directly influenced by marrow adiposity, remains unknown. To address this, we previously measured the bone marrow fat fraction of the femoral head, total
Wei Xu, Ines Mesa-Eguiagaray, David M. Morris, Chengjia Wang, Calum D. Gray, Samuel Sjöström, Giorgos Papanastasiou, Sammy Badr, Julien Paccou, Lijuan Wang, Xue Li, Paul R. H. J. Timmers, Maria Timofeeva, Scott IK Semple, Tom MacGillivray, Evropi Theodoratou, William P. Cawthorn   +16 more
doaj   +2 more sources

Cross-ancestry genome-wide association studies of liver function biomarkers uncover pleiotropic variants, systemic disease links and therapeutic targets [PDF]

Genome Medicine
Background Liver function-related quantitative biomarkers (LFQBs) are essential for assessing hepatic health, yet prior genome-wide association studies (GWAS) have largely studied them in isolation. We conducted cross-ancestry GWAS meta-analyses on seven
Wentao Yao, Jingyi Fan, Jing Lu, Haiyan Guo, Chengxiao Yu, Xuehui Wang, Yun Wang, Yu Zhang, Qingning Duan, Lihua Cheng, Chen Zhou, Zhaohui Wang, Juncheng Dai, Hongxia Ma, Qun Zhang, Ci Song, Hongbing Shen   +16 more
doaj   +2 more sources

Constructing genotype and phenotype network helps reveal disease heritability and phenome-wide association studies [PDF]

BMC Genomics
Background Analyses of a bipartite Genotype and Phenotype Network (GPN), linking the genetic variants and phenotypes based on statistical associations, provide an integrative approach to elucidate the complexities of genetic relationships across diseases
Xuewei Cao, Lirong Zhu, Xiaoyu Liang, Shuanglin Zhang, Qiuying Sha   +4 more
doaj   +2 more sources

Associations of ABO and Rhesus D blood groups with phenome-wide disease incidence: A 41-year retrospective cohort study of 482,914 patients

eLife, 2023
Background: Whether natural selection may have attributed to the observed blood group frequency differences between populations remains debatable. The ABO system has been associated with several diseases and recently also with susceptibility to COVID-19 ...
Peter Bruun-Rasmussen, Morten Hanefeld Dziegiel, Karina Banasik, Pär Ingemar Johansson, Søren Brunak   +4 more
doaj   +1 more source

Leveraging deep phenotyping from health check-up cohort with 10,000 Korean individuals for phenome-wide association study of 136 traits

Scientific Reports, 2022
The expanding use of the phenome-wide association study (PheWAS) faces challenges in the context of using International Classification of Diseases billing codes for phenotype definition, imbalanced study population ethnicity, and constrained application ...
Eun Kyung Choe, Manu Shivakumar, Anurag Verma, Shefali Setia Verma, Seung Ho Choi, Joo Sung Kim, Dokyoon Kim   +6 more
doaj   +1 more source

A Comprehensive Genome-Wide and Phenome-Wide Examination of BMI and Obesity in a Northern Nevadan Cohort

G3: Genes, Genomes, Genetics, 2020
The aggregation of Electronic Health Records (EHR) and personalized genetics leads to powerful discoveries relevant to population health. Here we perform genome-wide association studies (GWAS) and accompanying phenome-wide association studies (PheWAS) to
Karen A. Schlauch, Robert W. Read, Vincent C. Lombardi, Gai Elhanan, William J. Metcalf, Anthony D. Slonim, the 23andMe Research Team, Joseph J. Grzymski   +7 more
doaj   +1 more source