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

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) …

Short tandem repeats (STRs) are highly polymorphic sequences throughout the human
genome that are composed of repeated copies of a 1–6-bp motif. Over 1 million variable …

Oculopharyngodistal myopathy (OPDM) is an adult-onset neuromuscular disease
characterized by progressive ocular, facial, pharyngeal and distal limb muscle involvement …

Expansions of short tandem repeats are genetic variants that have been implicated in
several neuropsychiatric and other disorders, but their assessment remains challenging with …

Expansions of gene-specific DNA tandem repeats (TRs), first described in 1991 as a
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …

Oculopharyngodistal myopathy (OPDM) is an adult-onset inherited neuromuscular disorder
characterized by progressive ptosis, external ophthalmoplegia, and weakness of the …

Tandemly repeated DNA is highly mutable and causes at least 31 diseases, but it is hard to
detect pathogenic repeat expansions genome-wide. Here, we report robust detection of …

Background Neuronal intranuclear inclusion disease (NIID) is a heterogenous
neurodegenerative disorder named after its pathological features. It has long been …

The recent advent of third-generation sequencing technologies brings promise for better
characterization of genomic structural variants by virtue of having longer reads. However …