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 …

Despite advances in clinical genetic testing, including the introduction of exome sequencing
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal
recessive neurodegenerative disease, usually caused by biallelic AAGGG repeat …

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 …

The exponential growth of global data has outpaced the storage capacities of current
technologies, necessitating innovative storage strategies. DNA, as a natural medium for …

We developed a diagnostic method for repeat expansion diseases using a long-read
sequencer to improve currently available, low throughput diagnostic methods. We employed …

Indigenous Australians harbour rich and unique genomic diversity. However, Aboriginal and
Torres Strait Islander ancestries are historically under-represented in genomics research …

Background Third-generation nanopore sequencers offer selective sequencing or “Read
Until” that allows genomic reads to be analyzed in real time and abandoned halfway if not …

Tandem repeats (TRs) are highly polymorphic in the human genome, have thousands of
associated molecular traits and are linked to over 60 disease phenotypes. However, they …

Long‐read sequencing (LRS) has been around for more than a decade, but widespread
adoption of the technology has been slow due to the perceived high error rates and high …