The epigenome has been heralded as a key'missing piece'of the aetiological puzzle for
complex phenotypes across the biomedical sciences. The standard research approaches …

Random monoallelic expression (RME) of genes represents a striking example of how
stochastic molecular processes can result in cellular heterogeneity. Recent transcriptome …

Autoinflammatory disease can result from monogenic errors of immunity. We describe a
patient with early-onset multi-organ immune dysregulation resulting from a mosaic, gain-of …

Inborn errors of immunity (IEIs) are generally considered to be rare monogenic disorders of
the immune system that cause immunodeficiency, autoinflammation, autoimmunity, allergy …

Cellular heterogeneity can emerge from the expression of only one parental allele.
However, it has remained controversial whether, or to what degree, random monoallelic …

Population epigenetics explores the extent of epigenetic variation and its dynamics in
natural populations encountering changing environmental conditions. In contrast to …

Primary immunodeficiencies (PIDs) comprise a diverse group of over 400 genetic disorders
that result in clinically apparent immune dysfunction. Although PIDs are classically …

X chromosome inactivation (XCI) and allelic exclusion of olfactory receptors or
immunoglobulin loci represent classic examples of random monoallelic expression (RME) …

Alzheimer's disease (AD) is a complex neurodegenerative disorder involving dysregulation
of many biological pathways at multiple levels. Classical epigenetic mechanisms, including …

Random autosomal monoallelic gene expression refers to the transcription of a gene from
one of two homologous alleles. We assessed the dynamics of monoallelic expression during …