Rapid advances in nanopore technologies for sequencing single long DNA and RNA
molecules have led to substantial improvements in accuracy, read length and throughput …

Long-read technologies are overcoming early limitations in accuracy and throughput,
broadening their application domains in genomics. Dedicated analysis tools that take into …

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

The DNA sequencing technologies in use today produce either highly accurate short reads
or less-accurate long reads. We report the optimization of circular consensus sequencing …

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

COVID-19 is caused by the coronavirus SARS-CoV-2, which jumped into the human
population in late 2019 from a currently uncharacterised animal reservoir. Due to this recent …

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

Nanopore sequencing is a rapidly maturing technology delivering long reads in real time on
a portable instrument at low cost. Not surprisingly, the community has rapidly taken up this …

The wide implementation of next-generation sequencing (NGS) technologies has
revolutionized the field of medical genetics. However, the short read lengths of currently …

Structural and quantitative chromosomal rearrangements, collectively referred to as
structural variation (SV), contribute to a large extent to the genetic diversity of the human …