Structural variants (SVs) are an important source of human genetic diversity, but their
contribution to traits, disease and gene regulation remains unclear. We mapped cis …

Chromosomal copy number changes are frequently associated with harmful consequences
and are thought of as an underlying mechanism for the development of diseases. However …

We performed RNA sequencing on 40,000 cells to create a high-resolution single-cell gene
expression atlas of developing human cortex, providing the first single-cell characterization …

Although genome-wide association studies (GWAS) have identified several hundred loci
associated with autoimmune diseases, their mechanistic insights are still poorly understood …

The human genome contains hundreds of thousands of regions harboring copy-number
variants (CNV). However, the phenotypic effects of most such polymorphisms are unknown …

Genetic generalised epilepsy (GGE) is the most common form of genetic epilepsy,
accounting for 20% of all epilepsies. Genomic copy number variations (CNVs) constitute …

MICA is a stress-induced ligand of the NKG2D receptor that stimulates NK and T cell
responses and was identified as a key determinant of anti-tumor immunity. The MICA gene …

Abstract Background Copy number variations (CNVs) have been shown to account for
substantial portions of observed genomic variation and have been associated with …

Abstract Type 1 diabetes (T1D) is a complex autoimmune disease characterized by an
absolute deficiency of insulin. It affects more than 20 million people worldwide and imposes …

The intensities from genotyping array data can be used to detect copy number variants
(CNVs) but a high level of noise in the data and overlap between different copy‐number …