Background: In Bangladesh, > 50 million individuals are chronically exposed to inorganic arsenic (iAs) through drinking water, increasing risk for cancer and other [...]

In genome-wide association studies (GWAS), it is often desirable to test for interactions, such as gene–environment (G x E) or gene–gene (G x G) interactions, between sin [...]

Arsenic exposure remains a leading public health concern. Folic acid (FA) supplementation enhances one-carbon metabolism (OCM), thus promoting arsenic methylation and fac [...]

The cardiac conduction system (CCS) orchestrates the electrical impulses that enable coordinated contraction of the cardiac chambers. The T-box transcription factors TBX3 [...]

Cellular plasticity is a principal feature of vertebrate adaptation, tissue repair and tumorigenesis. However, the mechanisms that regulate the stability of somatic cell [...]

Detecting and quantifying the strength of selection is a major objective in population genetics. Since selection acts over multiple generations, many approaches have been [...]

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Spatial population genetic models are useful tools to study the impact of geographical processes, such as migration and population structure, on genetic variation in huma [...]

One key component of study design in population genetics is the “geographic breadth” of a sample (i.e., how broad a region across which individuals are sampled). How the [...]

Genetic effects on complex traits may depend on context, such as age, sex, environmental exposures, or social settings. However, it remains often unclear if the extent of [...]

Background: Differential expression analysis is pivotal in single-cell transcriptomics for unraveling cell-type–specific responses to stimuli. While numerous methods a [...]

Genome-wide association studies (GWAS) have made significant strides in identifying genetic loci associated with complex traits and diseases. However, most of these loci [...]

Many proteins form paralogous multimers—molecular complexes in which evolutionarily related proteins are arranged into specific quaternary structures. Little is known abo [...]

The search for the genetic factors underlying complex neuropsychiatric disorders has proceeded apace in the past decade. Despite some advances in identifying genetic vari [...]

Myocardial infarction (MI) compromises the cardiac microvascular endothelial barrier, increasing leakage and inflammation. HIF2α, predominantly expressed in cardiac endot [...]

Tibetan adaptation to high-altitude hypoxia remains a classic example of Darwinian selection in humans. Amongst Tibetan populations, alleles in the EPAS1 gene - whose pro [...]

Ineffective medication is a major healthcare problem causing significant patient suffering and economic costs. This issue stems from the complex nature of diseases, which [...]

Understanding the genetic regulatory mechanisms of gene expression is an ongoing challenge. Genetic variants that are associated with expression levels are readily identi [...]

Identifying the molecular effects of human genetic variation across cellular contexts is crucial for understanding the mechanisms underlying disease-associated loci, yet [...]

Background: DNA methylation (DNAm) data from human samples has been leveraged to develop “epigenetic clock” algorithms that predict age and other aging-related phenoty [...]

Vertebrates differ over 100,000-fold in responses to pro-inflammatory agonists such as bacterial lipopolysaccharide (LPS), complicating use of animal models to study huma [...]

Previous evolutionary models of duplicate gene evolution have overlooked the pivotal role of genome architecture. Here, we show that proximity-based regulatory recruitmen [...]

Background: The vast majority of genes in the genome are multi-exonic, and are alternatively spliced during transcription, resulting in multiple isoforms for each gene. F [...]

It is commonly reported that rare variants may be more functionally related to complex diseases than common variants. However, individual rare variant association tests r [...]

Background: Poor air quality is associated with poor health. Little attention is given to the complex array of environmental exposures and air pollutants that affect m [...]