Results 31 to 40 of about 3,687 (173)

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

Bioinformatics, 2020
Abstract 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 been proposed to control for case ...
Xiuwen Zheng 0001, J. Wade Davis
openaire   +2 more sources

Increased risk of multisystem comorbidities and disease trajectories following hyperthyroidism: evidence from the 0.5 million UK Biobank population

Endocrine Connections
Methods: After a 1:4 propensity score matching, a total of 5,832 hyperthyroidism patients and 22,579 controls from the UK Biobank were included in this study.
Qiuyuan Chen, Doudou Chen, Xinpan Wang, Yunhao Zheng, Longyao Zhang, Zaiming Li, Xiaoyu Wu, Qin Chen, Ruyang Zhang, Feng Chen, Tao Yang, Xuqin Zheng, Yongyue Wei   +12 more
doaj   +1 more source

Detection of pleiotropy through a Phenome-wide association study (PheWAS) of epidemiologic data as part of the Environmental Architecture for Genes Linked to Environment (EAGLE) study.

PLoS Genetics, 2014
We performed a Phenome-wide association study (PheWAS) utilizing diverse genotypic and phenotypic data existing across multiple populations in the National Health and Nutrition Examination Surveys (NHANES), conducted by the Centers for Disease Control ...
Molly A Hall, Anurag Verma, Kristin D Brown-Gentry, Robert Goodloe, Jonathan Boston, Sarah Wilson, Bob McClellan, Cara Sutcliffe, Holly H Dilks, Nila B Gillani, Hailing Jin, Ping Mayo, Melissa Allen, Nathalie Schnetz-Boutaud, Dana C Crawford, Marylyn D Ritchie, Sarah A Pendergrass   +16 more
doaj   +1 more source

Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases

Advanced Science, EarlyView.
Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Jianqing Li, Yijun Ge, Jingxiao Du, Liu Yang, Bangsheng Wu, Chenyue Hang, Mengxi Shen, Yimin Mao, Ting Zhang, Qiyu Bo, Tianyuan Zhao, Yutian Jiao, Yazhi Wang, Shunxiang Gao, Jieqiong Chen, Junran Sun, Tong Li, Huixun Jia, Yang Dou, Wei Cheng, Xiaoling Wan, Jintai Yu, Xiaodong Sun, Bai Lu   +23 more
wiley   +1 more source

Big Data in Cancer Genomics: Computational Foundations and Emerging Pathways for Precision Oncology

Computational and Systems Oncology, Volume 6, Issue 1, December 2026.
ABSTRACT This review aims to explore the computational foundations of big data in cancer genomics and examine emerging pathways that support precision oncology and personalized cancer care. A narrative review approach was adopted to synthesize evidence from PubMed, Scopus, Web of Science, and IEEE Xplore.
Nur Vanu, Nur Mohammad, Fahad Ahmed, Towsif Alam, Koushik Saha, Durga Shahi, Adib Hossain, Mia Md. Tofayel Gonee Manik, Mst. Rina Parvin   +8 more
wiley   +1 more source

Searching for the causal effects of body mass index in over 300 000 participants in UK Biobank, using Mendelian randomization.

PLoS Genetics, 2019
Mendelian randomization (MR) has been used to estimate the causal effect of body mass index (BMI) on particular traits thought to be affected by BMI. However, BMI may also be a modifiable, causal risk factor for outcomes where there is no prior reason to
Louise A C Millard, Neil M Davies, Kate Tilling, Tom R Gaunt, George Davey Smith   +4 more
doaj   +1 more source

A phenome-wide association study (PheWAS) in the Population Architecture using Genomics and Epidemiology (PAGE) study reveals potential pleiotropy in African Americans.

PLoS ONE, 2019
We performed a hypothesis-generating phenome-wide association study (PheWAS) to identify and characterize cross-phenotype associations, where one SNP is associated with two or more phenotypes, between thousands of genetic variants assayed on the ...
Sarah A Pendergrass, Steven Buyske, Janina M Jeff, Alex Frase, Scott Dudek, Yuki Bradford, Jose-Luis Ambite, Christy L Avery, Petra Buzkova, Ewa Deelman, Megan D Fesinmeyer, Christopher Haiman, Gerardo Heiss, Lucia A Hindorff, Chun-Nan Hsu, Rebecca D Jackson, Yi Lin, Loic Le Marchand, Tara C Matise, Kristine R Monroe, Larry Moreland, Kari E North, Sungshim L Park, Alex Reiner, Robert Wallace, Lynne R Wilkens, Charles Kooperberg, Marylyn D Ritchie, Dana C Crawford   +28 more
doaj   +1 more source

Body Mass Index and Risks of More Than 40 Cause‐Specific Mortality in Chinese Women: A Prospective Cohort Study

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 4, August 2026.
ABSTRACT Background The health consequences of being underweight are less well‐studied than obesity. We aimed to examine the association between body mass index (BMI) and mortality from a wide range of diseases across the full BMI spectrum, with particular focus on how low BMI may affect premature and nonpremature death.
Jingcen Hu, Yalei Ke, Canqing Yu, Dianjianyi Sun, Yuanjie Pang, Pei Pei, Ling Yang, Yiping Chen, Huaidong Du, Xiaoyu Chang, Maxim Barnard, Junshi Chen, Zhengming Chen, Liming Li, Jun Lv, China Kadoorie Biobank Collaborative Group   +15 more
wiley   +1 more source

CADM2 is implicated in impulsive personality and numerous other traits by genome- and phenome-wide association studies in humans and mice

Translational Psychiatry, 2023
Impulsivity is a multidimensional heritable phenotype that broadly refers to the tendency to act prematurely and is associated with multiple forms of psychopathology, including substance use disorders.
Sandra Sanchez-Roige, Mariela V. Jennings, Hayley H. A. Thorpe, Jazlene E. Mallari, Lieke C. van der Werf, Sevim B. Bianchi, Yuye Huang, Calvin Lee, Travis T. Mallard, Samuel A. Barnes, Jin Yi Wu, Amanda M. Barkley-Levenson, Ely C. Boussaty, Cedric E. Snethlage, Danielle Schafer, Zeljana Babic, Boyer D. Winters, Katherine E. Watters, Thomas Biederer, 23andMe Research Team, James Mackillop, David N. Stephens, Sarah L. Elson, Pierre Fontanillas, Jibran Y. Khokhar, Jared W. Young, Abraham A. Palmer   +26 more
doaj   +1 more source

Obstructive Sleep Apnea: Epidemiology, Pathophysiology, Complications, Diagnosis, Management, and Emerging Fibrosis‐Linked Remodeling

MedComm, Volume 7, Issue 8, August 2026.
Obstructive sleep apnea (OSA) is characterized by recurrent upper‐airway collapse, which generates key nocturnal stressors including intermittent hypoxia, sleep fragmentation, intrathoracic pressure stress, and sympathetic activation. These physiological disturbances converge on shared biological mechanisms, including oxidative stress, inflammation ...
Nhi Ho Thi Thuy, Thị Hằng Giang Phan, Ali Hussein Eid, Paola Maccioccu, Stefania Camboni, Gavino Casu, Anna Maria Posadino, Roberta Giordo, Gianfranco Pintus   +8 more
wiley   +1 more source