Results 141 to 150 of about 6,310 (247)

Disease associations depend on visit type: results from a visit-wide association study

BioData Mining, 2019
Introduction Widespread adoption of Electronic Health Records (EHR) increased the number of reported disease association studies, or Phenome-Wide Association Studies (PheWAS).
Mary Regina Boland, Snigdha Alur-Gupta, Lisa Levine, Peter Gabriel, Graciela Gonzalez-Hernandez   +4 more
doaj   +1 more source

Heterogeneous associations between interleukin-6 receptor variants and phenotypes across ancestries and implications for therapy

Scientific Reports
The Phenome-Wide Association Study (PheWAS) is increasingly used to broadly screen for potential treatment effects, e.g., IL6R variant as a proxy for IL6R antagonists. This approach offers an opportunity to address the limited power in clinical trials to
Xuan Wang, Molei Liu, Isabelle-Emmanuella Nogues, Tony Chen, Xin Xiong, Clara-Lea Bonzel, Harrison Zhang, Chuan Hong, Yin Xia, Kumar Dahal, Lauren Costa, Jing Cui, VA Million Veteran Program, J. Michael Gaziano, Seoyoung C. Kim, Yuk-Lam Ho, Kelly Cho, Tianxi Cai, Katherine P. Liao   +18 more
doaj   +1 more source

11 Novel Systematic Method for Identifying Congenital Anomaly Cases in Electronic Health Record Databases

Journal of Clinical and Translational Science
OBJECTIVES/GOALS: Congenital anomalies (CAs) affect 3% of live births, yet the cause of 80% of CAs is unknown and for the 20% with an identified cause, variability in penetrance suggests additional risk drivers exist.
Elly Brokamp, Lisa Bastarache, Nancy Cox, Rizwan Hamid, Nikhil K. Khanakari, Gillian Hooker, Megan Shuey   +6 more
doaj   +1 more source

From GWAS to PheWAS: the search for causality in big data [PDF]

The Lancet Digital Health, 2019
Jonathan Y, Huang, Jeremy A, Labrecque
openaire   +2 more sources

Assessment of Avifaunal Diversity and Threats to them in Phewa Wetland, Nepal

Forestry: Journal of Institute of Forestry, Nepal, 2019
We assessed species diversity and relative abundance during February - March by employing transect method in four line transects and 30 point count stations, and associated threats by direct observations and consultation with people (n= 1) living in vicinity of Phewa wetland. We counted 2651 bird individuals of 148 species belonging to 104 Genera of 44
Suman Ghimire, Yajna Prasad Timilsina, Bijaya Neupane, Namrata Devi Khatri   +3 more
openaire   +2 more sources

Clinical implications of bone marrow adiposity identified by phenome-wide association and Mendelian randomization in the UK Biobank

Nature Communications
Bone marrow adiposity changes in diverse diseases, but the full scope of these, and whether they are directly influenced by marrow adiposity, remains unknown. To address this, we previously measured the bone marrow fat fraction of the femoral head, total
Wei Xu, Ines Mesa-Eguiagaray, David M. Morris, Chengjia Wang, Calum D. Gray, Samuel Sjöström, Giorgos Papanastasiou, Sammy Badr, Julien Paccou, Lijuan Wang, Xue Li, Paul R. H. J. Timmers, Maria Timofeeva, Scott IK Semple, Tom MacGillivray, Evropi Theodoratou, William P. Cawthorn   +16 more
doaj   +1 more source

Degradation Dynamics and Conservation Imperatives of Phewa Wetland, Nepal

The Himalayan Geographers
Phewa Wetland, a vital ecological area within Nepal’s Phewa Lacustrine Plain, is experiencing rapid degradation due to escalating natural and anthropogenic pressures. This study employs a mixed-method approach combining field observation, GIS-based spatial analysis, and secondary data review to assess the wetland’s ecological status, sedimentation ...
Ramjee Prasad Pokharel, Daya Sagar Subedi   +1 more
openaire   +1 more source

Exploring Effects of Age at the Onset of Myopia on Multiple Diseases Using Electronic Health Records

Ophthalmology Science
Purpose: To examine whether genetic predisposition to age at the onset of myopia is associated with the development of future diseases. Design: Mendelian randomization phenome-wide association study (MR-PheWAS) from the UK Biobank.
Xiayin Zhang, PhD, Shan Wang, MD, Yu Huang, PhD, Yanjie Xie, PhD, Ishith Seth, MD, Gabriella Bulloch, MD, Chunran Lai, MD, Yijun Hu, PhD, Xianwen Shang, PhD, Mingguang He, PhD, Zhuoting Zhu, PhD, Honghua Yu, PhD   +11 more
doaj   +1 more source

Phenotypic findings associated with variation in elastin

HGG Advances
Summary: Variation in the elastin gene (ELN) may contribute to connective tissue disease beyond the known disease associations of supravalvar aortic stenosis and cutis laxa.
Anne Justice, Melissa A. Kelly, Gary Bellus, Joshua D. Green, Raza Zaidi, Taylor Kerrins, Navya Josyula, Teresa R. Luperchio, Beth A. Kozel, Marc S. Williams   +9 more
doaj   +1 more source

Pharmacological targets of SGLT2 inhibition on prostate cancer mediated by circulating metabolites: a drug-target Mendelian randomization study

Frontiers in Pharmacology
BackgroundThe relationship between sodium-glucose cotransporter 2 (SGLT2) inhibitors and prostate cancer is still unknown. Although these inhibitors can influence tumor glycolysis, the underlying mechanism requires further exploration.MethodsA two-sample
Yilong Lin, Yilong Lin, Yue Zhang, Songsong Wang, Lin Cao, Ruidan Zhao, Xilai Ma, Qiaolu Yang, Liyi Zhang, Qingmo Yang, Qingmo Yang   +10 more
doaj   +1 more source