Results 1 to 10 of about 3,687 (173)

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

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.
Rion K Pendergrass, Dana Crawford, Marylyn D Ritchie   +2 more
exaly   +5 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

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

Phenome-wide association studies on a quantitative trait: application to TPMT enzyme activity and thiopurine therapy in pharmacogenomics. [PDF]

PLoS Computational Biology, 2013
Phenome-Wide Association Studies (PheWAS) investigate whether genetic polymorphisms associated with a phenotype are also associated with other diagnoses.
Antoine Neuraz, Laurent Chouchana, Georgia Malamut, Christine Le Beller, Denis Roche, Philippe Beaune, Patrice Degoulet, Anita Burgun, Marie-Anne Loriot, Paul Avillach   +9 more
doaj   +1 more source

Scalable and Robust Regression Methods for Phenome-Wide Association Analysis on Large-Scale Biobank Data

Frontiers in Genetics, 2021
With the advances in genotyping technologies and electronic health records (EHRs), large biobanks have been great resources to identify novel genetic associations and gene-environment interactions on a genome-wide and even a phenome-wide scale.
Wenjian Bi, Wenjian Bi, Wenjian Bi, Seunggeun Lee   +3 more
doaj   +1 more source

Genome‐wide pathogenesis interpretation using a heat diffusion‐based systems genetics method and implications for gene function annotation

Molecular Genetics & Genomic Medicine, 2020
Background Genetics is best dedicated to interpreting pathogenesis and revealing gene functions. The past decade has witnessed unprecedented progress in genetics, particularly in genome‐wide identification of disorder variants through Genome‐Wide ...
Yuan Quan, Qing‐Ye Zhang, Bo‐Min Lv, Rui‐Feng Xu, Hong‐Yu Zhang   +4 more
doaj   +1 more source

HCLC-FC: A novel statistical method for phenome-wide association studies.

PLoS ONE, 2022
The emergence of genetic data coupled to longitudinal electronic medical records (EMRs) offers the possibility of phenome-wide association studies (PheWAS).
Xiaoyu Liang, Xuewei Cao, Qiuying Sha, Shuanglin Zhang   +3 more
doaj   +1 more source