Innate immunity is the first defense system against invading pathogens. Toll-like receptors
(TLRs) are well-defined pattern recognition receptors responsible for pathogen recognition …

Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …

Structural variants (SVs) rearrange large segments of DNA and can have profound
consequences in evolution and human disease,. As national biobanks, disease-association …

B lymphocytes have a central role in autoimmune diseases, which are often defined by
specific autoantibody patterns and feature a loss of B cell tolerance. A prototypic disease …

Large-scale population genomic surveys are essential to explore the phenotypic diversity of
natural populations. Here we report the whole-genome sequencing and phenotyping of …

New technologies and analysis methods are enabling genomic structural variants (SVs) to
be detected with ever-increasing accuracy, resolution and comprehensiveness. To help …

As long-read sequencing technologies are becoming increasingly popular, a number of
methods have been developed for the discovery and analysis of structural variants (SVs) …

The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a …

Studies of the genetics of psychiatric disorders have become one of the most exciting and
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …

Structural variants are implicated in numerous diseases and make up the majority of varying
nucleotides among human genomes. Here we describe an integrated set of eight structural …