Results 1 to 10 of about 6,093 (247)

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, Marylyn D Ritchie, Dana Crawford   +2 more
exaly   +8 more sources

PHEWAS, TWAS, Mendelian Randomization in Osteoporosis Research: the good, the bad, and the ugly [PDF]

Curr Osteoporos Rep
Purpose of review While GWAS has identified many loci associated with bone mineral density (BMD), translating these findings into functional insights and treatments remains challenging. Post-GWAS methods such as Transcriptome-Wide Association Study (TWAS)
Siwen Li, K. Trajanoska
semanticscholar   +3 more sources

PheWAS analysis on large-scale biobank data with PheTK

Bioinformatics
SUMMARY With the rapid growth of genetic data linked to electronic health record data in huge cohorts, large-scale phenome-wide association study (PheWAS) have become powerful discovery tools in biomedical research.
Chenjie Zeng, Josh Denny, Tam Tran
exaly   +7 more sources

Using Phecodes for Research with the Electronic Health Record: From PheWAS to PheRS

Annual Review of Biomedical Data Science, 2021
Electronic health records (EHRs) are a rich source of data for researchers, but extracting meaningful information out of this highly complex data source is challenging.
Lisa Bastarache
exaly   +4 more sources

Connecting phenotype to genotype: PheWAS-inspired analysis of autism spectrum disorder

Frontiers in Human Neuroscience, 2022
Autism Spectrum Disorder (ASD) is extremely heterogeneous clinically and genetically. There is a pressing need for a better understanding of the heterogeneity of ASD based on scientifically rigorous approaches centered on systematic evaluation of the ...
Tayo Obafemi-Ajayi, Yasser El-Manzalawy, John Matta   +2 more
exaly   +5 more sources

A Fast and Accurate Algorithm to Test for Binary Phenotypes and Its Application to PheWAS [PDF]

American Journal of Human Genetics, 2017
The availability of electronic health record (EHR)-based phenotypes allows for genome-wide association analyses in thousands of traits, and has great potential to identify novel genetic variants associated with clinical phenotypes.
Rounak Dey, Seunggeun Lee, Ellen Schmidt   +2 more
exaly   +4 more sources

PheWAS and cross-disorder analysis reveal genetic architecture, pleiotropic loci and phenotypic correlations across 11 autoimmune disorders

Frontiers in Immunology, 2023
Introduction Autoimmune disorders (ADs) are a group of about 80 disorders that occur when self-attacking autoantibodies are produced due to failure in the self-tolerance mechanisms.
A. Topaloudi, Pritesh R. Jain, Melanie B. Martinez, Josephine K. Bryant, Grace Reynolds, Zoi Zagoriti, George Lagoumintzis, E. Zamba-Papanicolaou, John Tzartos, Konstantinos Poulas, K. Kleopa, Socrates J. Tzartos, Marianthi Georgitsi, P. Drineas, P. Paschou   +14 more
exaly   +2 more sources

A Phenome-Wide association study (PheWAS) of genetic risk for C-reactive protein in children of European Ancestry: Results from the ABCD study

Brain, Behavior, and Immunity
BACKGROUND: C-reactive protein (CRP) is a moderately heritable marker of systemic inflammation that is associated with adverse physical and mental health outcomes.
Sara Norton
exaly   +2 more sources

PTGES2 and RNASET2 identified as novel potential biomarkers and therapeutic targets for basal cell carcinoma: insights from proteome-wide mendelian randomization, colocalization, and MR-PheWAS analyses

Frontiers in Pharmacology
Introduction Basal cell carcinoma (BCC) is the most common skin cancer, lacking reliable biomarkers or therapeutic targets for effective treatment. Genome-wide association studies (GWAS) can aid in identifying drug targets, repurposing existing drugs ...
Yi-Pan Zhu
exaly   +2 more sources

Mendelian randomization case-control PheWAS in UK Biobank shows evidence of causality for smoking intensity in 28 distinct clinical conditions

EClinicalMedicine, 2020
Background Smoking is one of the greatest threats to public health worldwide. We integrated phenome-wide association study (PheWAS) and Mendelian randomization (MR) approaches to explore causal effects of genetically predicted smoking intensity across ...
Ang Zhou, Robert Walton, Catherine King   +2 more
exaly   +2 more sources