Phenome-wide association studies

Results 21 to 30 of about 21,579,379 (182)

Genome-wide association study of hyperthyroidism based on electronic medical record from Taiwan

Frontiers in Medicine, 2022
Excess thyroid hormones have complex metabolic effects, particularly hyperthyroidism, and are associated with various cardiovascular risk factors. Previous candidate gene studies have indicated that genetic variants may contribute to this variable ...
Ting-Yuan Liu +17 more
doaj +1 more source

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

Current Genetic Medicine Reports, 2015
Marylyn D Ritchie
exaly +2 more sources

Methodology in phenome-wide association studies:a systematic review [PDF]

, 2021
Phenome-wide association study (PheWAS) has been increasingly used to identify novel genetic associations across a wide spectrum of phenotypes. This systematic review aims to summarise the PheWAS methodology, discuss the advantages and challenges of ...
Zhang, Xiaomeng +8 more
core +1 more source

Biobanking across the phenome - at the center of chronic disease research [PDF]

, 2013
Recognized public health relevant risk factors such as obesity, physical inactivity, smoking or air pollution are common to many non-communicable diseases (NCDs). NCDs cluster and co-morbidities increase in parallel to age.
Nicole M Probst-Hensch +3 more
core +2 more sources

Phenome-wide associations with genetically predicted height in non-Hispanic White individuals.

, 2022
Plot of phecodes versus -log10(p-value) for association with genetically-predicted height in non-Hispanic White participants in MVP. Phecodes were limited to single decimal place for clarity (e.g., 427.2 for atrial fibrillation or flutter is shown but ...
Kyong-Mi Chang (267170) +23 more
core +1 more source

Genome‐wide pathogenesis interpretation using a heat diffusion‐based systems genetics method and implications for gene function annotation

Molecular Genetics & Genomic Medicine, 2020
Background Genetics is best dedicated to interpreting pathogenesis and revealing gene functions. The past decade has witnessed unprecedented progress in genetics, particularly in genome‐wide identification of disorder variants through Genome‐Wide ...
Yuan Quan +4 more
doaj +1 more source

Phenome-wide associations with genetically predicted height in non-Hispanic Black individuals.

, 2022
Plot of phecodes versus -log10(p-value) for association with genetically-predicted height in non-Hispanic Black participants in MVP. Phecodes were limited to single decimal place for clarity (e.g., 427.2 for atrial fibrillation or flutter is shown but ...
Kyong-Mi Chang (267170) +23 more
core +1 more source

Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

BMC Cardiovascular Disorders, 2019
Background We characterised the phenotypic consequence of genetic variation at the PCSK9 locus and compared findings with recent trials of pharmacological inhibitors of PCSK9. Methods Published and individual participant level data (300,000+ participants)
Amand F. Schmidt +167 more
doaj +1 more source

Efficient Genome-wide Association in Biobanks Using Topic Modeling Identifies Multiple Novel Disease Loci

Molecular Medicine, 2017
Biobanks and national registries represent a powerful tool for genomic discovery, but rely on diagnostic codes that can be unreliable and fail to capture relationships between related diagnoses.
Thomas H. McCoy +4 more
doaj +1 more source

The causes and consequences of Alzheimer’s disease: phenome-wide evidence from Mendelian randomization

Nature Communications, 2022
Observational studies have found overlap between Alzheimer’s disease and other diseases and phenotypes, although the causal relationships are unclear. Here, the authors perform an age-stratified phenome-wide association study of Alzheimer’s disease (AD ...
Roxanna Korologou-Linden +11 more
doaj +1 more source

mendelian randomization
science
medicine

phewas
genetics
genome-wide association study gwas

electronic health records
phenome
genome-wide association studies