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

More than a decade ago, the term “next-generation” sequencing was coined to describe
what was, at the time, revolutionary new methods to sequence RNA and DNA at a faster …

Although single‐nucleotide polymorphism (SNPs) were initially thought to make‐up the
majority of selectable variation (Morin, Luikart, & Wayne, 2004; Sachidanandam et al …

Large-scale population analyses coupled with advances in technology have demonstrated
that the human genome is more diverse than originally thought. To date, this diversity has …

Alterations in the structure and location of telomeres are pivotal in cancer genome evolution.
Here, we applied both long-read and short-read genome sequencing to assess telomere …

Modern sequencing technology enables the systematic detection of complex structural
variation (SV) across genomes. However, extensive DNA rearrangements arising through a …

Chromosomal structural variation (SV) encompasses a heterogenous class of genetic
variants that exerts strong influences on human health and disease. Despite their …

The 3rd generation of sequencing (3GS) technologies generate ultra-long reads (up to 1
Mb), which makes it possible to eliminate gaps and effectively resolve repeats in genome …

Chromosomal structural variations (SVs) are a main cause of human genetic disease.
Currently, karyotype, chromosomal microarray analysis (CMA), and fluorescent in situ …

Long-range sequencing grants insight into additional genetic information beyond what can
be accessed by both short reads and modern long-read technology. Several new …