Results 61 to 70 of about 274,572 (340)

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou   +12 more
wiley   +1 more source

An integrated genomic approach for the study of mandibular prognathism in the European seabass (Dicentrarchus labrax) [PDF]

open access: yes, 2016
Skeletal anomalies in farmed fish are a relevant issue affecting animal welfare and health and causing significant economic losses. Here, a high-density genetic map of European seabass for QTL mapping of jaw deformity was constructed and a genome-wide ...
Babbucci, Massimiliano   +7 more
core   +2 more sources

Validation of a Genetic Risk Score Combined with Clinical Variables for Predicting Pulmonary Fibrosis in early Rheumatoid Arthritis

open access: yesArthritis Care &Research, Accepted Article.
Objectives Pulmonary fibrosis (PF) is a severe extra‐articular manifestation of rheumatoid arthritis (RA). The study aimed to externally validate a genetic risk score (GRS) and a combined risk score for predicting the risk of RA‐associated PF in an independent cohort of early‐RA patients. Methods This study utilized an inception cohort of 1118 patients
Mikael Brink   +3 more
wiley   +1 more source

Genome‐Wide by Lifetime Environment Interaction Studies of Brain Imaging Phenotypes

open access: yesAdvanced Science, EarlyView.
This study explores genome‐wide by lifetime environment interactions on brain imaging phenotypes. Gene‐environment interactions explain more phenotypic variance than main effects, pinpoint regulatory variants, and reveal exposure‐specific biological pathways.
Sijia Wang   +51 more
wiley   +1 more source

Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits. [PDF]

open access: yes, 2019
The cardiac transcription factor (TF) gene NKX2-5 has been associated with electrocardiographic (EKG) traits through genome-wide association studies (GWASs), but the extent to which differential binding of NKX2-5 at common regulatory variants contributes
Benaglio, Paola   +17 more
core  

Construction of a Multitissue Cell Atlas Reveals Cell‐Type‐Specific Regulation of Molecular and Complex Phenotypes in Pigs

open access: yesAdvanced Science, EarlyView.
This research conducts an in‐depth investigation of cell‐type‐specific regulatory mechanisms underlying molecular and complex phenotypes through integrative analysis of multitissue single‐nucleus RNA sequencing, bulk RNA‐seq, and genome‐wide association study (GWAS) data in pigs.
Lijuan Chen   +31 more
wiley   +1 more source

GenEpi: gene-based epistasis discovery using machine learning. [PDF]

open access: yes, 2020
BackgroundGenome-wide association studies (GWAS) provide a powerful means to identify associations between genetic variants and phenotypes. However, GWAS techniques for detecting epistasis, the interactions between genetic variants associated with ...
Alzheimer’s Disease Neuroimaging Initiative   +9 more
core  

Advancements and Prospects of Genome-Wide Association Studies (GWAS) in Maize

open access: yesInternational Journal of Molecular Sciences
Genome-wide association studies (GWAS) have emerged as a powerful tool for unraveling intricate genotype–phenotype association across various species. Maize (Zea mays L.), renowned for its extensive genetic diversity and rapid linkage disequilibrium (LD),
Javed Hussain Sahito   +7 more
semanticscholar   +1 more source

High‐Resolution Genomic Resources for Trait Mapping and Precision Breeding for Adzuki Bean (Vigna angularis)

open access: yesAdvanced Science, EarlyView.
This study establishes crucial genomic resources for adzuki bean, including a reference genome, variation map, and the AdzukiBeanAtlas toolkit. We identify key candidate genes (ANKRD50, NAC73, ANR1, NPF5.4) for important agronomic traits through Genome‐Wide Association Studies (GWAS).
Liangliang Hu   +26 more
wiley   +1 more source

Editing GWAS: experimental approaches to dissect and exploit disease-associated genetic variation

open access: yesGenome Medicine, 2021
Genome-wide association studies (GWAS) have uncovered thousands of genetic variants that influence risk for human diseases and traits. Yet understanding the mechanisms by which these genetic variants, mainly noncoding, have an impact on associated ...
Shuquan Rao, Yao Yao, D. E. Bauer
semanticscholar   +1 more source

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