Identifying large expansions of short tandem repeats (STRs), such as those that cause
amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read …

Repeat expansions are responsible for over 40 monogenic disorders, and undoubtedly
more pathogenic repeat expansions remain to be discovered. Existing methods for detecting …

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 …

Short tandem repeats (STRs), also known as microsatellites, are commonly defined as
consisting of tandemly repeated nucleotide motifs of 2–6 base pairs in length. STRs appear …

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

Pathogenic short tandem repeat (STR) expansions cause over 20 neurodegenerative
diseases. To determine the contribution of STRs in sporadic amyotrophic lateral sclerosis …

Genomic technologies such as next-generation sequencing (NGS) are revolutionizing
molecular diagnostics and clinical medicine. However, these approaches have proven …

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

Microsatellite expansion, such as trinucleotide repeat expansion (TRE), is known to cause a
number of genetic diseases. Sanger sequencing and next-generation short-read …

Expansions of short tandem repeats (STRs) cause many rare diseases. Expansion detection
is challenging with short-read DNA sequencing data since supporting reads are often …