The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …

Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

Zoonomia is the largest comparative genomics resource for mammals produced to date. By
aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect …

Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …

Short tandem repeats (STRs) are enriched in eukaryotic cis-regulatory elements and alter
gene expression, yet how they regulate transcription remains unknown. We found that STRs …

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 …

Autism spectrum disorder (ASD) is an early-onset developmental disorder characterized by
deficits in communication and social interaction and restrictive or repetitive behaviours …

Repetitive DNA sequences playing critical roles in driving evolution, inducing variation, and
regulating gene expression. In this review, we summarized the definition, arrangement, and …

Expansion of a single repetitive DNA sequence, termed a tandem repeat (TR), is known to
cause more than 50 diseases,. However, repeat expansions are often not explored beyond …

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