Results 1 to 10 of about 39,899,172 (210)

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

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   +4 more sources

Wearable‐Derived Diurnal Alignment Between Physical Activity and Device Temperature Predicts Future Disease and Mortality Risk

Advanced Science, EarlyView.
Wearable‐derived diurnal alignment between physical activity and device temperature, decomposed into 24 h coupling strength (M24), phase deviation (D24), and 12 h harmonic magnitude (M12), is examined in approximately 90,000 UK Biobank participants.
Han Chen, Jiahe Wei, Jonathan Cedernaes, Christian Benedict, Athanasios Tsanas, Zhi Cao, Xiao Tan   +6 more
wiley   +1 more source

Comprehensive Evidence for Mortality and Underlying Morbidity Related to Visceral Fat Distribution

Med Research
Linking obesity to mortality is an intriguing and controversial topic. This study tried to comprehensively assess 8 adiposity surrogates and mortality association among middle‐to‐old‐aged adults to identify a superior one, and explore explanatory ...
Haolong Zhou, Danyang Ling, Qin Huang, Jiaojun Liang, Guanhua Su, Zhangbo Cui, Ziwei Chen, Xiaowen Ma, Zhou Jiang, Shuo Zheng, Haodong Tian, Qi Wang   +11 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

Prioritizing susceptibility genes for the prognosis of male-pattern baldness with transcriptome-wide association study

Human Genomics
Background Male-pattern baldness (MPB) is the most common cause of hair loss in men. It can be categorized into three types: type 2 (T2), type 3 (T3), and type 4 (T4), with type 1 (T1) being considered normal.
Eunyoung Choi, Jaeseung Song, Yubin Lee, Yeonbin Jeong, Wonhee Jang   +4 more
doaj   +1 more source

Predictors of Change in Severity of Self‐Injurious Behaviors in Preschool‐Aged Autistic Children

Autism Research, EarlyView.
ABSTRACT Self‐injurious behaviors (SIBs) affect up to 50% of autistic individuals and significantly impact quality of life and everyday functioning. Cross‐sectional studies link the presence of SIB to lower IQ, altered sensory responsivity, and poor emotion regulation, yet their effect on changes in SIB severity from early childhood to school age in ...
Joseph Boyle, Andrew Dakopolos, Olivia Surgent, Joshua K. Lee, Derek S. Andrews, Brianna Heath, Jason Smucny, Marjorie Solomon, Sally J. Rogers, Christine Wu Nordahl   +9 more
wiley   +1 more source

Genetic investigation into the broad health implications of caffeine: evidence from phenome-wide, proteome-wide and metabolome-wide Mendelian randomization

BMC Medicine
Background Caffeine is one of the most utilized drugs in the world, yet its clinical effects are not fully understood. Circulating caffeine levels are influenced by the interplay between consumption behaviour and metabolism.
Loukas Zagkos, Héléne T. Cronjé, Benjamin Woolf, Roxane de La Harpe, Stephen Burgess, Christos S. Mantzoros, Paul Elliott, Shuai Yuan, Susanna C. Larsson, Ioanna Tzoulaki, Dipender Gill   +10 more
doaj   +1 more source

Toward Objective Anal Cancer Screening: From Swab‐Based Genome‐Wide Methylation Marker Discovery to Novel Test Development

International Journal of Cancer, EarlyView.
ABSTRACT Anal high‐grade squamous intraepithelial lesions (HSIL:AIN2/3) are precursors to anal cancer, and early detection and treatment through screening is crucial for effective cancer prevention. Current guidelines recommend anal swab‐based screening and highlight the need for objective biomarkers to improve risk stratification.
Kirsten Rozemeijer, Jürgen Claesen, Fernando Dias Gonçalves Lima, Albertus T. Hesselink, Phoebe Klingers, Timo ter Braak, Yara van den Burgt, Chris J. L. M. Meijer, Jan M. Prins, Henry J. C. de Vries, Mark A. van de Wiel, Renske D. M. Steenbergen   +11 more
wiley   +1 more source

Precision Mapping of Retinal Disease: Identification of Differential Progression Trajectories via Imaging Phenomics

iMetaMed, EarlyView.
Applying single‐cell RNA‐seq techniques to large‐scale clinical phenotypic data enables the discovery of differential disease progression trajectories and the construction of data‐driven progression scores. These can then be integrated into precision medicine studies to investigate the drivers of patient‐specific disease outcomes. ABSTRACT We propose a
Christian Anderson, Liam Scott, Irene Leung, Ferenc Sallo, Catherine Egan, Tunde Peto, The MacTel Consortium, Melanie Bahlo, Martin Friedlander, Simone Tzaridis, Lea Scheppke, Roberto Bonelli   +11 more
wiley   +1 more source

Omics GWAS: A Multi‐Omics Integrative Analysis Platform for Genome‐Wide Association Studies

Med Research, EarlyView.
ABSTRACT With the rapid advancement of genome‐wide association studies (GWAS), downstream analyses of GWAS data have become essential for elucidating the genetic mechanisms that underlie complex diseases. However, current post‐GWAS analyses face numerous challenges, including heterogeneous data formats, challenges in multi‐omics integration, and ...
Xu Zhang, Kailai Li, Yasi Zhang, Cenwen Liu, Shunyi Huang, Yingzhao Jin, Yugeng Gao, Quan Cheng, Yunyun Mei   +8 more
wiley   +1 more source