Single-cell RNA sequencing highlights the influence of host–pathogen interactions and stochasticity on transcriptional and phenotypic variance in lymphoblastoid cell lines derived from Epstein–Barr virus-infected primary B cells.

There is limited epigenetic conservation of lineage-specific DNA elements in Treg cells, and genetic variation in Treg cell specific enhancers is associated with autoimmune disease.

A flexible transcription initiation architecture and a uniform regulatory grammar buffer expression variability and the effects of genetic variants on essential genes while a rigid transcription initiation architecture and a diverse regulatory grammar ensure condition-specific responsiveness of other genes.

Genetic variation can impact multiple levels of gene regulation and disease through alternative polyadenylation.

Hyperactive interferon signaling is a hallmark of trisomy 21 and may contribute to many of the comorbidities associated with Down syndrome.

Integrating gene expression with genetic association data provided insights into the functional relevance of genetic risk for a complex disease, thus implicating folliculin as a putative diabetic retinopathy susceptibility gene.

Active and repressive chromatin marks, asymmetrically distributed between alleles, distinguish gene bodies subject to epigenetically controlled monoallelic expression on autosomes in human cells.

A comparative analysis of human and chimpanzee polyadenylation site usage establishes alternative polyadenylation as another key mechanism underlying the genetic regulation of transcript and protein expression levels in primates.

Individuals with deletions or duplications of the NUDT21 gene have altered levels of MeCP2 protein and intellectual disabilities.