Results 21 to 30 of about 3,687 (173)

A simulation study investigating power estimates in phenome-wide association studies

BMC Bioinformatics, 2018
Background Phenome-wide association studies (PheWAS) are a high-throughput approach to evaluate comprehensive associations between genetic variants and a wide range of phenotypic measures.
Anurag Verma, Yuki Bradford, Scott Dudek, Anastasia M. Lucas, Shefali S. Verma, Sarah A. Pendergrass, Marylyn D. Ritchie   +6 more
doaj   +1 more source

Apolipoprotein E (APOE) genotype-associated disease risks: a phenome-wide, registry-based, case-control study utilising the UK Biobank

EBioMedicine, 2020
Background: The three main alleles of the APOE gene (ε4, ε3 and ε2) carry differential risks for conditions including Alzheimer's disease (AD) and cardiovascular disease.
Amanda L. Lumsden, Anwar Mulugeta, Ang Zhou, Elina Hyppönen   +3 more
doaj   +1 more source

Health effects of high serum calcium levels: Updated phenome-wide Mendelian randomisation investigation and review of Mendelian randomisation studies

EBioMedicine, 2022
Summary: Background: Calcium plays a role in a wide range of biological functions. Here we conducted a phenome-wide Mendelian randomisation (MR-PheWAS) analysis and a systematic review for MR studies to comprehensively investigate the health effects of ...
Shuai Yuan, Lili Yu, Wanglong Gou, Lijuan Wang, Jing Sun, Doudou Li, Ying Lu, Xiaxia Cai, Huanling Yu, Changzheng Yuan, Ju-sheng Zheng, Susanna C. Larsson, Evropi Theodoratou, Xue Li   +13 more
doaj   +1 more source

Joint mouse–human phenome-wide association to test gene function and disease risk

Nature Communications, 2016
Phenome-wide association is a novel method that links sequence variants to a spectrum of phenotypes and diseases. Here the authors generate detailed mouse genetic and phenome data which links their phenome-wide association study (PheWAS) of mouse to ...
Xusheng Wang, Ashutosh K. Pandey, Megan K. Mulligan, Evan G. Williams, Khyobeni Mozhui, Zhengsheng Li, Virginija Jovaisaite, L. Darryl Quarles, Zhousheng Xiao, Jinsong Huang, John A. Capra, Zugen Chen, William L. Taylor, Lisa Bastarache, Xinnan Niu, Katherine S. Pollard, Daniel C. Ciobanu, Alexander O. Reznik, Artem V. Tishkov, Igor B. Zhulin, Junmin Peng, Stanley F. Nelson, Joshua C. Denny, Johan Auwerx, Lu Lu, Robert W. Williams   +25 more
doaj   +1 more source

Using phenome-wide association studies to examine the effect of environmental exposures on human health

Environment International, 2019
The field of environmental epidemiology has been using “-omics” technologies, including the exposome, metabolome, and methylome, to understand the potential effects and biological pathways of a number of environmental pollutants. However, the majority of
Joseph M. Braun, Geetika Kalloo, Samantha L. Kingsley, Nan Li   +3 more
doaj   +1 more source

Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network.

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   +1 more source

Large-Scale Simultaneous Testing of Cross-Covariance Matrices with Applications to PheWAS [PDF]

Statistica Sinica, 2019
Motivated by applications in phenome-wide association studies (PheWAS), we consider in this paper simultaneous testing of columns of high-dimensional cross-covariance matrices and develop a multiple testing procedure with theoretical guarantees. It is shown that the proposed testing procedure maintains a desired false discovery rate (FDR) and false ...
Cai, Tianxi, Cai, T. Tony, Liao, Katherine, Liu, Weidong   +3 more
openaire   +3 more sources

An integrative functional genomics framework for effective identification of novel regulatory variants in genome–phenome studies

Genome Medicine, 2018
Background Genome–phenome studies have identified thousands of variants that are statistically associated with disease or traits; however, their functional roles are largely unclear.
Junfei Zhao, Feixiong Cheng, Peilin Jia, Nancy Cox, Joshua C. Denny, Zhongming Zhao   +5 more
doaj   +1 more source

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

BMC Genomics, 2022
Abstract 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.
Feng, Yen-Chen A., Stanaway, Ian B., Connolly, John J., Denny, Joshua C., Luo, Yuan, Weng, Chunhua, Wei, Wei-Qi, Weiss, Scott T., Karlson, Elizabeth W., Smoller, Jordan W.   +9 more
openaire   +4 more sources

A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program.

PLoS Genetics, 2022
The study aims to determine the shared genetic architecture between COVID-19 severity with existing medical conditions using electronic health record (EHR) data.
Anurag Verma, Noah L Tsao, Lauren O Thomann, Yuk-Lam Ho, Sudha K Iyengar, Shiuh-Wen Luoh, Rotonya Carr, Dana C Crawford, Jimmy T Efird, Jennifer E Huffman, Adriana Hung, Kerry L Ivey, Michael G Levin, Julie Lynch, Pradeep Natarajan, Saiju Pyarajan, Alexander G Bick, Lauren Costa, Giulio Genovese, Richard Hauger, Ravi Madduri, Gita A Pathak, Renato Polimanti, Benjamin Voight, Marijana Vujkovic, Seyedeh Maryam Zekavat, Hongyu Zhao, Marylyn D Ritchie, VA Million Veteran Program COVID-19 Science Initiative, Kyong-Mi Chang, Kelly Cho, Juan P Casas, Philip S Tsao, J Michael Gaziano, Christopher O'Donnell, Scott M Damrauer, Katherine P Liao   +36 more
doaj   +1 more source