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Phenome-wide association studies between SERINC2 and neuropsychiatric disorders

Frontiers in Psychiatry
ObjectivesSERINC2 has been associated with alcoholism, bipolar disorder and autism, but the comparability and specificity issues of the findings remain unaddressed. The present study aimed to comprehensively analyze various neuropsychiatric disorders pinpoint the most reliable conditions predisposed by SERINC2.MethodsA total of 2,187 imputed SNPs ...
Cao Liping, Tan Yunlong, Luo Xingguang   +2 more
exaly   +4 more sources

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Genome-Wide Association Study of Intracranial Artery Stenosis Followed by Phenome-Wide Association Study

Translational Stroke Research, 2022
The genetic background of intracranial artery stenosis (ICAS), a major cause of ischemic stroke, remains elusive. We performed the world's first genome-wide association study (GWAS) of ICAS using DNA samples from Japanese subjects, to identify the genetic factors associated with ICAS and their correlation with clinical features.
Shogo Dofuku, Kyuto Sonehara, Satoru Miyawaki, Saori Sakaue, Hideaki Imai, Masahiro Shimizu, Hiroki Hongo, Yuki Shinya, Kenta Ohara, Yu Teranishi, Atsushi Okano, Hideaki Ono, Hirofumi Nakatomi, Akira Teraoka, Kenichi Yamamoto, Yuichi Maeda, Takuro Nii, Toshihiro Kishikawa, Ken Suzuki, Jun Hirata, Meiko Takahashi, Koichi Matsuda, Atsushi Kumanogoh, Fumihiko Matsuda, Yukinori Okada, Nobuhito Saito   +25 more
openaire   +2 more sources

THE TREND TOWARDS PHENOME-WIDE ASSOCIATION STUDIES (PheWASs) IN COVID-19 RESEARCH [PDF]

SOUTHERN JOURNAL OF SCIENCES, 2022
Background: Coronavirus Disease-2019 (COVID-19) appears in individuals asymptomatically and in various symptomatic forms. Symptomatic diversity can result in diagnosis failures, hospitalization, admission to intensive care, multi-organ failure, and death. The causes and risk factors of the severity of disease symptoms are uncertain.
Atçeken, Nazente, Kozalak, Gül, Ozgul, Rıza Köksal, Syed, Hamzah   +3 more
openaire   +1 more source

Phenome-Wide Association Study

2016
J.L. Warner, J.C. Denny
exaly   +2 more sources

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

Phenome-Wide Association Studies: Leveraging Comprehensive Phenotypic and Genotypic Data for Discovery [PDF]

Current Genetic Medicine Reports, 2015
With the large volume of clinical and epidemiological data being collected, increasingly linked to extensive genotypic data, coupled with expanding high-performance computational resources, there are considerable opportunities for comprehensively exploring the networks of connections that exist between the phenome and the genome.
Marylyn D Ritchie, Ritchie Marylyn D
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
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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