Results 21 to 30 of about 22,489,720 (176)

Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative

open access: yesGenome Medicine, 2022
Background Large medical centers in urban areas, like Los Angeles, care for a diverse patient population and offer the potential to study the interplay between genetic ancestry and social determinants of health.
Ruth Johnson   +25 more
doaj   +1 more source

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

open access: yes, 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   +17 more
core   +1 more source

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

open access: yesFrontiers 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 Mendelian randomization study evaluating the association of circulating vitamin D with complex diseases

open access: yesFrontiers in Nutrition, 2023
BackgroundCirculating vitamin D has been associated with multiple clinical diseases in observational studies, but the association was inconsistent due to the presence of confounders.
Jin-jian Xu   +5 more
doaj   +1 more source

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

open access: yes, 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   +5 more
core   +2 more sources

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

open access: yesMolecular 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 association analysis of LDL-cholesterol lowering genetic variants in PCSK9

open access: yesBMC 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

Summary statistics for: Phenome-wide analyses identify an association between the parent-of-origin effects dependent methylome and the rate of aging in humans

open access: yes, 2023
Summary statistics of single POE-CpG based and POE-CpG co-methylation module based phenome-wide association analyses for the manuscript "Phenome-wide analyses identify an association between the parent-of-origin effects dependent methylome and the rate ...
Chenhao,Gao   +16 more
core   +1 more source

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

open access: yesMolecular 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

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