Epileptogenesis in infants with tuberous sclerosis complex (TSC) is a gradual and dynamic
process, leading to early onset and difficult-to-treat seizures. Several cellular, molecular and …

Pathogen-imposed selection pressures have been paramount during human evolution.
Detecting such selection signatures in ancient and modern human genomes can thus help …

The contribution of host genetic and nongenetic factors to immunological differences in
humans remains largely undefined. Here, we generated bacterial-, fungal-, and viral …

Age is the primary risk factor for many common human diseases. Here, we quantify the
relative contributions of genetics and aging to gene expression patterns across 27 tissues …

The existence of a sex gap in human health and longevity has been widely documented.
Autosomal DNA methylation differences between males and females have been reported …

Understanding the consequences of individual transcriptome variation is fundamental to
deciphering human biology and disease. We implement a statistical framework to quantify …

Transcriptome sequencing is a powerful technique to study molecular changes that underlie
the differences in physiological conditions and disease progression. A typical question that …

Mice fully deficient in peptidylarginine deiminase 4 (PAD4) enzyme have preserved cardiac
function and reduced collagen deposition during ageing. The cellular source of PAD4 is …

Alternative RNA splicing is a key step in gene expression that allows generation of
numerous messenger RNA transcripts encoding proteins of varied functions from the same …

Cells in largely non-mitotic tissues such as the brain are prone to stochastic (epi-) genetic
alterations that may cause increased variability between cells and individuals over time …