Mitochondrial diseases are amongst the most genetically and phenotypically diverse groups
of inherited diseases. The vast phenotypic overlap with other disease entities together with …

Trait-associated genetic variants affect complex phenotypes primarily via regulatory mechanisms
on the transcriptome. To investigate the genetics of gene expression, we performed cis…

Ferroptosis is a form of regulated necrotic cell death controlled by glutathione peroxidase 4 (GPX4).
At present, mechanisms that could predict sensitivity and/or resistance and that may …

Identifying the downstream effects of disease-associated SNPs is challenging. To help
overcome this problem, we performed expression quantitative trait locus (eQTL) meta-analysis in …

… is the respiratory chain, which uses the reduced substrates NADH, FADH 2 , ubiquinol and
ferrocytochrome c in a step-wise manner to finally react with molecular oxygen to produce H 2 …

… Steps 12 and 13, MAE module: ~2 h counting/sample/core, 1 h for generation of all results.
Running the negative binomial test needed 11 GB/sample, which was also the step that …

Approximately 1.5 billion people worldwide are overweight or affected by obesity, and are at
risk of developing type 2 diabetes, cardiovascular disease and related metabolic and …

Type 2 diabetes (T2D) can be prevented in pre‐diabetic individuals with impaired glucose
tolerance (IGT). Here, we have used a metabolomics approach to identify candidate …

Elevated serum uric acid levels cause gout and are a risk factor for cardiovascular disease
and diabetes. To investigate the polygenetic basis of serum uric acid levels, we conducted a …

The number and volume of cells in the blood affect a wide range of disorders including cancer
and cardiovascular, metabolic, infectious and immune conditions. We consider here the …