Genomic technologies, such as targeted, exome and short-read genome sequencing
approaches, have revolutionized the care of patients with rare genetic diseases. However …

Joint profiling of chromatin accessibility and gene expression in individual cells provides an
opportunity to decipher enhancer-driven gene regulatory networks (GRNs). Here we present …

More than 2000 variations are described within the CFTR (Cystic Fibrosis Transmembrane
Regulator) gene and related to large clinical issues from cystic fibrosis to mono-organ …

Remote enhancers are thought to interact with their target promoters via physical proximity,
yet the importance of this proximity for enhancer function remains unclear. Here we …

Cis-regulatory elements (CREs) interact with trans regulators to orchestrate gene
expression, but how transcriptional regulation is coordinated in multi-gene loci has not been …

Identifying transcriptional enhancers and their target genes is essential for understanding
gene regulation and the impact of human genetic variation on disease 1–6. Here we create …

Recent studies have demonstrated that the three-dimensional conformation of the chromatin
plays a crucial role in gene regulation, with aberrations potentially leading to various …

Microglial activation often accompanies the plastic changes occurring in the brain of patients
with neurodegenerative diseases. A2A and A3 adenosine receptors have been proposed as …

Mutations in the transcription factor GATA2 can cause MonoMAC syndrome, a GATA2
deficiency disease characterized by several findings, including disseminated …

Cell classes in the human retina are highly heterogeneous with their abundance varying by
several orders of magnitude. Here, we generated and integrated a multi-omics single-cell …