Background Short tandem repeat (STR) expansion disorders are an important cause of
human neurological disease. They have an established role in more than 40 different …

Repeat expansion disorders (REDs) are monogenic diseases caused by a sequence of
repetitive DNA expanding above a pathogenic threshold. A common feature of the REDs is a …

Objective Advances in amyotrophic lateral sclerosis (ALS) gene discovery, ongoing gene
therapy trials, and patient demand have driven increased use of ALS genetic testing …

Expansion of a G4C2 repeat in the C9orf72 gene is associated with familial Amyotrophic
Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). To investigate the underlying …

Long-read sequencing (LRS) technologies have been recently introduced to overcome
intrinsic limitations of widely-used next-generation sequencing (NGS) technologies, namely …

A repeat expansion mutation in the C9orf72 gene is the leading known genetic cause of FTD
and ALS. The C9orf72-ALS/FTD field has been plagued by a lack of reliable tools to monitor …

A substantial fraction of the human genome is difficult to interrogate with short-read DNA
sequencing technologies due to paralogy, complex haplotype structures, or tandem repeats …

The expanded CAG repeat number in HTT gene causes Huntington disease (HD), which is
a severe, dominant neurodegenerative illness. The accurate determination of the expanded …

Introduction High repeat expansion (HRE) alleles in C9orf72 have been linked to both
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD); ranges for …

Spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a
neurodegenerative disorder caused by the ATXN3 CAG repeat expansion. Preimplantation …