High‐throughput sequencing (HTS) has revolutionized genetics by enabling the detection of
sequence variants at hitherto unprecedented large scale. Despite these advances, however …

Monoallelic expression not due to cis-regulatory sequence polymorphism poses an
intriguing problem in epigenetics because it requires the unequal treatment of two segments …

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 …

X-linked diseases typically exhibit more severe phenotypes in males than females. In
contrast, protocadherin 19 (PCDH19) mutations cause epilepsy in heterozygous females but …

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

Genetic and other variations frequently affect protein functions. Scientific articles can contain
confusing descriptions about which function or property is affected, and in many cases the …

Abstract The 2016 Database Issue of Nucleic Acids Research starts with overviews of the
resources provided by three major bioinformatics centers, the US National Center for …

One fundamental but understudied mechanism of gene regulation in disease is allele-
specific expression (ASE), the preferential expression of one allele. We leveraged RNA …

Monoallelic expression (MAE) or extreme allele bias can account for incomplete penetrance,
missing heritability and non-Mendelian diseases. In cancer, MAE is associated with shorter …

Human primary aldosteronism (PA) can be caused by mutations in several ion channel
genes but mouse models replicating this condition are lacking. We now show that almost all …