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 …

Plant genome sequences catalogue genes and the genetic elements that regulate their
expression. Such inventories further research aims as diverse as map** the molecular …

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 …

Despite linkage to chromosome 16q in 1996, the mutation causing spinocerebellar ataxia
type 4 (SCA4), a late-onset sensory and cerebellar ataxia, remained unknown. Here, using …

Fewer than half of individuals with a suspected Mendelian or monogenic condition receive a
precise molecular diagnosis after comprehensive clinical genetic testing. Improvements in …

Long-read sequencing is driving rapid progress in genome assembly across all major
groups of life, including species of the family Drosophilidae, a longtime model system for …

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 sequencing offers long contiguous DNA fragments, facilitating diploid genome
assembly and structural variant (SV) detection. Efficient and robust algorithms for SV …

Over the past decade, nanopore sequencing has experienced significant advancements
and changes, transitioning from an initially emerging technology to a significant instrument …

Less than half of individuals with a suspected Mendelian condition receive a precise
molecular diagnosis after comprehensive clinical genetic testing. Improvements in data …