Results 11 to 20 of about 6,310 (247)

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.
Tam C. Tran, David J. Schlueter, C. Zeng, Huan Mo, Robert J. Carroll, J. Denny   +5 more
semanticscholar   +6 more sources

Neuroimaging PheWAS and molecular phenotyping implicate PSMC3 in Alzheimer’s Disease

Alzheimer's & Dementia
INTRODUCTION: Neuroimaging genetics have advanced Alzheimer's disease (AD) research, yet frameworks mechanistically connecting genes to neurological outcomes via functional genomics are needed to elucidate genetic associations. To address this challenge,
X. Bledsoe, Ting-Chen Wang, Yi-Yang Wu, Derek B. Archer, Hung-Hsin Chen, A. Naj, W. Bush, T. Hohman, Logan C. Dumitrescu, J. Below, Eric R. Gamazon   +10 more
semanticscholar   +5 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)
Li S, Trajanoska K.
europepmc   +3 more sources

Overcome the Limitation of Phenome-Wide Association Studies (PheWAS): Extension of PheWAS to Efficient and Robust Large-Scale ICD Codes Analysis

medRxiv
The Phenome-wide association studies (PheWAS) have become widely used for efficient, high-throughput evaluation of relationship between a genetic factor and a large number of disease phenotypes, typically extracted from a DNA biobank linked with ...
Ya-Chen Lin, Si-Wei Zhang, Tess Vessels, L. Bastarache, C. Bejan, Ryan S Hsie, Elizabeth J. Philips, D. Ruderfer, J. Pulley, Todd L Edwards, Q. Wells, Jeremy L. Warner, J. Denny, D. Roden, Hakmook Kang, Yao-Min Xu   +15 more
semanticscholar   +3 more sources

EA-PheWAS: Integrating Phenotype Embeddings with PheWAS for Enhanced Gene-Phenotype Discovery

bioRxiv
Phenome-wide association studies (PheWAS) enable systematic exploration of relationships between genetic variants and clinical phenotypes derived from electronic health records (EHRs). Conventional regression-based PheWAS treats phenotypes separately and
Wang-Jie Zheng, Tian-Yu Liu, Le-Qi Xu, Yu-Han Xie, Yue-Qian Jing, Haoran Shao, Hong-Yu Zhao   +6 more
semanticscholar   +2 more sources

Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach

BMC Genomics, 2022
Background As genomic sequencing moves closer to clinical implementation, there has been an increasing acceptance of returning incidental findings to research participants and patients for mutations in highly penetrant, medically actionable genes.
Y. Feng, I. Stanaway, John J. Connolly, J. Denny, Yuan Luo, Chun-Hua Weng, Wei-Qi Wei, Scott T. Weiss, E. Karlson, J. Smoller   +9 more
semanticscholar   +5 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 ...
John Matta, Daniel Dobrino, Dacosta Yeboah, Swade Howard, Yasser el-Manzalawy, Tayo Obafemi-Ajayi   +5 more
semanticscholar   +4 more sources

Precision Target Discovery for Migraine: An Integrated GWAS-eQTL-PheWAS Pipeline

Molecules
Migraine is a complex neurological disorder that severely compromises quality of life. Current therapies remain inadequate, creating an urgent need for precision medicine approaches.
Xian-Ting Liu, Qingming Liu, Haoning Zhu, Xiao Zhou, Xinyao Li, Ming Hu, Fu Peng, Jianguang Ji, Shu Yang   +8 more
semanticscholar   +3 more sources

SAIGEgds - an efficient statistical tool for large-scale PheWAS with mixed models

Bioinformatics, 2020
SUMMARY Phenome-wide association studies (PheWASs) are known to be a powerful tool in discovery and replication of genetic association studies. To reduce the computational burden of PheWAS in the large cohorts such as the UK Biobank, the SAIGE method has
Xiu-Wen Zheng, J. W. Davis
semanticscholar   +3 more sources

A cross-disorder PRS-pheWAS of 5 major psychiatric disorders in UK Biobank [PDF]

PLOS Genetics, 2019
Psychiatric disorders are highly heritable and associated with a wide variety of social adversity and physical health problems. Using genetic liability (rather than phenotypic measures of disease) as a proxy for psychiatric disease risk can be a useful ...
B. Leppert, L. Millard, L. Riglin, G. Davey Smith, A. Thapar, K. Tilling, E. Walton, E. Stergiakouli   +7 more
semanticscholar   +9 more sources