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 maturation of high-throughput short-read sequencing technology over the past two
decades has shaped the way genomes are studied. Recently, single-molecule, long-read …

Calling structural variations (SVs) is technically challenging, but using long reads remains
the most accurate way to identify complex genomic alterations. Here we present Sniffles2 …

Short-read sequencing is the workhorse of cancer genomics yet is thought to miss many
structural variants (SVs), particularly large chromosomal alterations. To characterize missing …

The availability of long reads is revolutionizing studies of structural variants (SVs). However,
because SVs vary across individuals and are discovered through imprecise read …

We performed a phase 1 clinical trial to evaluate outcomes in patients receiving donor-
derived CD19-specific chimeric antigen receptor (CAR) T cells for B-cell malignancy that …

Conventional targeted sequencing methods eliminate many of the benefits of nanopore
sequencing, such as the ability to accurately detect structural variants or epigenetic …

Abstract Long-read Structural Variation (SV) calling remains a challenging but highly
accurate way to identify complex genomic rearrangements. Here, we present Sniffles2 …

Long-read DNA sequencing technologies have been rapidly evolving in recent years, and
their ability to assess large and complex regions of the genome makes them ideal for clinical …

Complex structural variants (CSVs) encompass multiple breakpoints and are often missed or
misinterpreted. We developed SVision, a deep-learning-based multi-object-recognition …