Recent research into structural variants (SVs) has established their importance to medicine
and molecular biology, elucidating their role in various diseases, regulation of gene …

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

INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …

Rare DNA alterations that cause heritable diseases are only partially resolvable by clinical
next-generation sequencing due to the difficulty of detecting structural variation (SV) in all …

Structural variants (SVs) are a major source of human genetic diversity and have been
associated with different diseases and phenotypes. The detection of SVs is difficult, and a …

When somatic cells acquire complex karyotypes, they often are removed by the immune
system. Mutant somatic cells that evade immune surveillance can lead to cancer. Neurons …

Structural variants (SVs) are a major source of genetic and phenotypic variation, but remain
challenging to accurately type and are hence poorly characterized in most species. We …

Abstract Charcot-Marie-Tooth disease (CMT) is one of the most common and genetically
heterogeneous inherited neurological diseases, with more than 130 disease-causing genes …

Structural variation (SV) plays a fundamental role in genome evolution and can underlie
inherited or acquired diseases such as cancer. Long-read sequencing technologies have …

The three-dimensional conformation of a genome can be profiled using Hi-C, a technique
that combines chromatin conformation capture with high-throughput sequencing. However …