Results 51 to 60 of about 46,677 (295)

Comparing allele specific expression and local expression quantitative trait loci and the influence of gene expression on complex trait variation in cattle

open access: yesBMC Genomics, 2018
Background The mutations changing the expression level of a gene, or expression quantitative trait loci (eQTL), can be identified by testing the association between genetic variants and gene expression in multiple individuals (eQTL mapping), or by ...
Majid Khansefid   +7 more
doaj   +1 more source

Immunosuppression causes dynamic changes in expression QTLs in psoriatic skin

open access: yesNature Communications, 2023
Psoriasis is a chronic, systemic inflammatory condition primarily affecting skin. While the role of the immune compartment (e.g., T cells) is well established, the changes in the skin compartment are more poorly understood.
Qian Xiao   +12 more
doaj   +1 more source

eQTL Catalogue: a compendium of uniformly processed human gene expression and splicing QTLs

open access: yesbioRxiv, 2020
An increasing number of gene expression quantitative trait locus (eQTL) studies have made summary statistics publicly available, which can be used to gain insight into complex human traits by downstream analyses, such as fine mapping and colocalisation ...
N. Kerimov   +16 more
semanticscholar   +1 more source

An optimal variant to gene distance window derived from an empirical definition of cis and trans protein QTLs

open access: yesBMC Bioinformatics, 2022
Background A genome-wide association study (GWAS) correlates variation in the genotype with variation in the phenotype across a cohort, but the causal gene mediating that impact is often unclear.
Eric B. Fauman, Craig Hyde
doaj   +1 more source

Novel Functional eQTL-SNPs Associated With Susceptibility to Mycoplasma pneumoniae Pneumonia in Children

open access: yesFrontiers in Public Health, 2022
BackgroundThe functional causal single-nucleotide polymorphisms (SNPs) associated with susceptibility to Mycoplasma pneumoniae Pneumonia (MPP) have scarcely been identified.
Yang Dong   +9 more
doaj   +1 more source

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. [PDF]

open access: yes, 2014
Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality.
A Kong   +271 more
core   +7 more sources

Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells

open access: yesbioRxiv, 2020
Background The discovery that somatic cells can be reprogrammed to induced pluripotent stem cells (iPSCs) has provided a foundation for in vitro human disease modelling, drug development and population genetics studies.
Drew R. Neavin   +16 more
semanticscholar   +1 more source

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

Causal Associations Between Smoking, Brain Structural Alterations and Psychiatric Disorders: Evidence From a Mediation Analysis. [PDF]

open access: yesAddict Biol
This study establishes smoking as a causal risk factor for schizophrenia, major depression and bipolar disorder using genetic evidence. We identified microstructural disorganization in the left uncinate fasciculus, a key corticolimbic white matter tract, as a significant mediator of this risk, explaining 19.6% of the effect on depression.
Chen Y   +14 more
europepmc   +2 more sources

Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms [PDF]

open access: yes, 2017
Coronary artery disease (CAD) is a leading cause of morbidity and mortality worldwide. Although 58 genomic regions have been associated with CAD thus far, most of the heritability is unexplained, indicating that additional susceptibility loci await ...
A Schröder   +126 more
core   +2 more sources

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