Tandem repeat sequences comprise approximately 8% of the human genome and are
linked to more than 50 neurodegenerative disorders. Accurate characterization of disease …

More than 50 neurological and neuromuscular diseases are caused by short tandem repeat
(STR) expansions, with 37 different genes implicated to date. We describe the use of …

Background Tandem repeat sequences are widespread in the human genome, and their
expansions cause multiple repeat-mediated disorders. Genome-wide discovery approaches …

Repeat expansion disorders are a unique class of genetic diseases caused by expansions
of short tandem repeats. Until recently, these pathogenic variations were detected with locus …

Background Short tandem repeat (STR), or “microsatellite”, is a tract of DNA in which a
specific motif (typically< 10 base pairs) is repeated multiple times. STRs are abundant …

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 …

Tandem repeat (TR) expansion is the underlying cause of over 40 neurological disorders.
Long-read sequencing offers an exciting avenue over conventional technologies for …

Technological limitations have hindered the large-scale genetic investigation of tandem
repeats in disease. We show that long-read sequencing with a single Oxford Nanopore …

Repeat expansions cause more than 30 inherited disorders, predominantly neurogenetic.
These can present with overlapping clinical phenotypes, making molecular diagnosis …

Research and diagnostics for medically relevant tandem repeats and repeat expansions are
hampered by the lack of population-scale databases. We attempt to fill this gap using our …