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 sequencing technologies have now reached a level of accuracy and yield that
allows their application to variant detection at a scale of tens to thousands of samples …

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 …

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 genetic landscape of Parkinson's disease (PD) is characterised by rare high penetrance
pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a …

Despite recent improvements in sequencing methods, there remains a need for assays that
provide high sequencing depth and comprehensive variant detection. Current methods …

Parkinson's disease (PD) is the second most common degenerative disorder. Although the
disease was described more than 200 years ago, its pathogenetic mechanisms have not yet …

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

Parkinson's disease is a genetically complex disorder. Multiple genes have been shown to
contribute to the risk of Parkinson's disease, and currently 90 independent risk variants have …

Cancer is a disease largely caused by genomic aberrations. Utilizing many rapidly emerging
sequencing technologies, researchers have studied cancer genomes to understand the …