Results 141 to 150 of about 10,755 (158)

Unravelling the human genome–phenome relationship using phenome-wide association studies

Nature Reviews Genetics, 2016
Advances in genotyping technology have, over the past decade, enabled the focused search for common genetic variation associated with human diseases and traits. With the recently increased availability of detailed phenotypic data from electronic health records and epidemiological studies, the impact of one or more genetic variants on the phenome is ...
Dana Crawford, William Bush, Bush William S   +2 more
exaly   +3 more sources

Phenotype-by-phenome-wide association study of treatment resistant depression

2022
Abstract Objective Treatment-resistant depression (TRD), defined as inadequate response to at least one or at least two antidepressant (AD) trials, is common in major depressive disorder (MDD). In this study, electronic health records (EHR) were used to identify clinical associations with TRD.
Brandon J Coombes, Jorge A Sanchez Ruiz, Brian Fennessy, Vanessa Pazdernik, Prakash Adekkanattu, Nicolas A Nunez, Lauren Lepow, Euijung Ryu, Ardesheer Talati, Greg D Jenkins, Richard Pendegraft, Priya Wickramaratne, J John Mann, Mark Olfson, Myrna M Weissman, Jyotishman Pathak, Alexander W Charney, Joanna M Biernacka   +17 more
openaire   +1 more source

Phenome‐wide association study in adult coeliac disease: role of HLA subtype

Alimentary Pharmacology & Therapeutics, 2020
SummaryBackgroundCoeliac disease arises in genetically susceptible individuals, in particular in carriers of HLA‐DQ2/DQ8 risk alleles and is associated with various comorbidities. Coeliac disease may confer an increased mortality, but the data are conflicting.AimsWe aimed to characterize mortality and morbidity in patients with coeliac disease with a ...
Carolin V. Schneider, Moritz Kleinjans, Malin Fromme, Kai Markus Schneider, Pavel Strnad   +4 more
openaire   +2 more sources

[Research progress in the methodology used in phenome-wide association studies].

Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi, 2022
Phenome-wide association study (PheWAS) is a reverse genetic analysis method to identify the potential phenotypes associated with genetic variations. With the increasing availability of biomedical databases and electronic medical records (EMR), PheWAS has gradually become an effective tool to unveil the relationships between exposure and a broad range ...
F Y, Jiang, L J, Wang, J, Sun, L L, Yu, X, Zhou, Y M, Zhu, X, Li   +6 more
openaire   +1 more source

EHR-based phenome wide association study in pancreatic cancer.

AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science, 2015
Pancreatic cancer is one of the most common causes of cancer-related deaths in the United States, it is difficult to detect early and typically has a very poor prognosis. We present a novel method of large-scale clinical hypothesis generation based on phenome wide association study performed using Electronic Health Records (EHR) in a pancreatic cancer ...
Tomasz, Adamusiak, Mary, Shimoyama
openaire   +1 more source

Opportunities for drug repositioning from phenome-wide association studies

Nature Biotechnology, 2015
Majid Rastegar-Mojarad, Zhan Ye, Jill M Kolesar, Scott J Hebbring, Simon M Lin   +4 more
openaire   +2 more sources

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

EBioMedicine, 2020
Ang Zhou, Amanda Lumsden, Anwar Mulugeta   +2 more
exaly  

A Phenome-wide Association and Mendelian Randomization Study for Alzheimer’s Disease: A Prospective Cohort Study of 502,493 Participants From the UK Biobank

Biological Psychiatry, 2023
Yue-Ting Deng, Bang-Sheng Wu, Yu-Zhu Li   +2 more
exaly  

The Causal Effects of Blood Iron and Copper on Lipid Metabolism Diseases: Evidence from Phenome-Wide Mendelian Randomization Study

Nutrients, 2020
Michael Francis, Yitang Sun
exaly  

Comprehensive assessment of the associations between maternal diabetes and structural birth defects in offspring: a phenome-wide association study

Annals of Epidemiology, 2021
Peter Langlois, Jeremy Schraw, Philip J Lupo   +2 more
exaly