Results 11 to 20 of about 6,093 (247)

High-throughput multimodal automated phenotyping (MAP) with application to PheWAS [PDF]

Journal of the American Medical Informatics Association: JAMIA, 2019
Objective Electronic health records (EHR) linked with biorepositories are a powerful platform for translational studies. A major bottleneck exists in the ability to phenotype patients accurately and efficiently. The objective of this study was to develop
Chuan Hong, Víctor Castro, Peter Szolovits   +2 more
exaly   +5 more sources

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

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   +2 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,
Xavier Bledsoe, Ting-Chen Wang, Yi-Yang Wu, Derek B. Archer, Hung-Hsin Chen, A. Naj, W. Bush, T. Hohman, Logan C. Dumitrescu, J. Below, E. Gamazon   +10 more
semanticscholar   +5 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
Wangjie Zheng, Tianyu Liu, Le-Qi Xu, Yu-Han Xie, Yueqian Jing, Haoran Shao, Hongyu Zhao   +6 more
semanticscholar   +2 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. C. Denny, D. Roden, Hakmook Kang, Yao-Min Xu   +15 more
semanticscholar   +3 more sources

Phenome-wide association study (PheWAS) of colorectal cancer risk SNP effects on health outcomes in UK Biobank [PDF]

British Journal of Cancer, 2021
Background Associations between colorectal cancer (CRC) and other health outcomes have been reported, but these may be subject to biases, or due to limitations of observational studies.
Xiao-Meng Zhang, Xue Li, Yazhou He, P. Law, S. Farrington, H. Campbell, I. Tomlinson, R. Houlston, M. Dunlop, M. Timofeeva, E. Theodoratou   +10 more
semanticscholar   +3 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, J. Connolly, J. Denny, Yuan Luo, C. Weng, Wei-Qi Wei, Scott T. Weiss, E. Karlson, J. Smoller   +9 more
semanticscholar   +5 more sources

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 A Pendergrass, Kristin Brown-Gentry, Scott Dudek, Alex Frase, Eric S Torstenson, Robert Goodloe, Jose Luis Ambite, Christy L Avery, Steve Buyske, Petra Bůžková, Ewa Deelman, Megan D Fesinmeyer, Christopher A Haiman, Gerardo Heiss, Lucia A Hindorff, Chu-Nan Hsu, Rebecca D Jackson, Charles Kooperberg, Loic Le Marchand, Yi Lin, Tara C Matise, Kristine R Monroe, Larry Moreland, Sungshim L Park, Alex Reiner, Robert Wallace, Lynn R Wilkens, Dana C Crawford, Marylyn D Ritchie   +28 more
doaj   +2 more sources

MR-PheWAS for the causal effects of serum magnesium on multiple disease outcomes in Caucasian descent

iScience, 2021
Summary: Magnesium is integral to many physiological processes, whereas variations in its levels, even within the normal range, can have critical implications for health.
Longman Li, Wenjun Yang, Lulu Huang, Xiuming Feng, Hong Cheng, Xiaoting Ge, Gaohui Zan, Yanli Tan, Lili Xiao, Chaoqun Liu, Xing Chen, Zengnan Mo, Xiaobo Yang   +12 more
doaj   +2 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