Results 51 to 60 of about 98,679 (202)

Association of Interleukin 6 Receptor Variant With Cardiovascular Disease Effects of Interleukin 6 Receptor Blocking Therapy A Phenome-Wide Association Study [PDF]

open access: yes, 2018
This phenome-wide association study assesses clinical associations between interleukin 6 receptor ( IL6R ) single-nucleotide polyporphisms and known IL6R drug effects and whether large biobanks and genetics can be used to assess potential beneficial and ...
Huang, Jie   +20 more
core   +1 more source

Application of clinical text data for phenome-wide association studies (PheWASs) [PDF]

open access: yesBioinformatics, 2015
Abstract Motivation: Genome-wide association studies (GWASs) are effective for describing genetic complexities of common diseases. Phenome-wide association studies (PheWASs) offer an alternative and complementary approach to GWAS using data embedded in the electronic health record (EHR) to define the phenome. International Classification
Scott J. Hebbring   +5 more
openaire   +2 more sources

Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome [PDF]

open access: yes, 2022
Tourette Syndrome (TS) is a complex neurodevelopmental disorder characterized by vocal and motor tics lasting more than a year. It is highly polygenic in nature with both rare and common previously associated variants.
et al   +4 more
core   +1 more source

Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1 [PDF]

open access: yes, 2011
Restless legs syndrome (RLS) is a sensorimotor disorder with an age-dependent prevalence of up to 10% in the general population above 65 years of age. Affected individuals suffer from uncomfortable sensations and an urge to move in the lower limbs that ...
Juliane Winkelmann   +328 more
core   +1 more source

Novel and known morbidities of leukodystrophies identified using a phenome-wide association study [PDF]

open access: yesNeurology Clinical Practice, 2020
To determine shared comorbidities and to identify underrecognized or unexpected morbidities in children with leukodystrophies using an unbiased phenome-wide association study (PheWAS) analysis of a nationwide pediatric clinical and financial database.Data were extracted from the Pediatric Health Information System database. Patients with leukodystrophy
Joshua L. Bonkowsky   +3 more
openaire   +2 more sources

A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium [PDF]

open access: yes, 2011
Genome-wide association studies (GWAS) have been successful in identifying common genetic variation involved in susceptibility to etiologically complex disease.
Marsit CJ   +934 more
core   +1 more source

A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank. [PDF]

open access: yesNat Commun
Most genetic association studies focus on binary variants. To identify the effects of multi-allelic variation of tandem repeats (TRs) on human traits, we perform direct TR genotyping and phenome-wide association studies in 168,554 individuals from the UK
Manigbas CA   +7 more
europepmc   +2 more sources

A population-based phenome-wide association study of cardiac and aortic structure and function [PDF]

open access: yesNature Medicine, 2020
Differences in cardiac and aortic structure and function are associated with cardiovascular diseases and a wide range of other types of disease. Here we analyzed cardiovascular magnetic resonance images from a population-based study, the UK Biobank, using an automated machine-learning-based analysis pipeline.
Wenjia Bai   +18 more
openaire   +4 more sources

First genome-wide association study on anxiety-related behaviours in childhood [PDF]

open access: yes, 2013
Background: Twin studies have shown that anxiety in a general population sample of children involves both domain-general and trait-specific genetic effects.
Hanscombe, K.B.   +66 more
core   +1 more source

Phenome‐Wide Association Study of Autoantibodies to Citrullinated and Noncitrullinated Epitopes in Rheumatoid Arthritis [PDF]

open access: yesArthritis & Rheumatology, 2017
ObjectivePatients with rheumatoid arthritis (RA) develop autoantibodies against a spectrum of antigens, but the clinical significance of these autoantibodies is unclear. Using a phenome‐wide association study (PheWAS) approach, we examined the association between autoantibodies and clinical subphenotypes of RA.MethodsThis study was conducted in a ...
Liao, Katherine   +11 more
openaire   +5 more sources

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