Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease. [PDF]
The MHC region is highly associated with autoimmune and infectious diseases. Here we conduct an in-depth interrogation of associations between genetic variation, gene expression and disease.
Aguiar +76 more
core +2 more sources
Navigating Transition Metal‐Dependent Cell Death: Mechanisms, Crosstalk, and Future Directions
Transition metals trigger distinct regulated cell death pathways beyond traditional apoptosis. This review examines ferroptosis (iron‐catalyzed lipid peroxidation) and cuproptosis (copper‐induced mitochondrial proteotoxicity), while exploring hypothetical “cobaltosis” as a novel pathway.
Qinghang Song, Yuxuan Yang, Lina Yang
wiley +1 more source
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
The impact of short tandem repeat variation on gene expression. [PDF]
Short tandem repeats (STRs) have been implicated in a variety of complex traits in humans. However, genome-wide studies of the effects of STRs on gene expression thus far have had limited power to detect associations and provide insights into putative ...
Fotsing, Stephanie Feupe +7 more
core +1 more source
GenEpi: gene-based epistasis discovery using machine learning. [PDF]
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
A Meta-Analysis of Genome-Wide Association Scans Identifies IL18RAP, PTPN2, TAGAP, and PUS10 As Shared Risk Loci for Crohn's Disease and Celiac Disease [PDF]
This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are ...
Annese, V +17 more
core +8 more sources
Causal associations between risk factors and common diseases inferred from GWAS summary data
Health risk factors such as body mass index (BMI) and serum cholesterol are associated with many common diseases. It often remains unclear whether the risk factors are cause or consequence of disease, or whether the associations are the result of ...
Zhihong Zhu +10 more
semanticscholar +1 more source
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
Fine-mapping cis-regulatory variants in diverse human populations
Genome-wide association studies (GWAS) are a powerful approach for connecting genotype to phenotype. Most GWAS hits are located in cis-regulatory regions, but the underlying causal variants and their molecular mechanisms remain unknown.
Ashley Tehranchi +6 more
doaj +1 more source
Molecular Genetic Influences on Normative and Problematic Alcohol Use in a Population-Based Sample of College Students [PDF]
Background: Genetic factors impact alcohol use behaviors and these factors may become increasingly evident during emerging adulthood. Examination of the effects of individual variants as well as aggregate genetic variation can clarify mechanisms ...
Adkins, Amy +16 more
core +2 more sources

