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 …

Long-read sequencing platforms provide unparalleled access to the structure and
composition of all classes of tandemly repeated DNA from STRs to satellite arrays. This …

The factors driving or preventing pathological expansion of tandem repeats remain largely
unknown. Here, we assessed the FGF14 (GAA)·(TTC) repeat locus in 2,530 individuals by …

Despite linkage to chromosome 16q in 1996, the mutation causing spinocerebellar ataxia
type 4 (SCA4), a late-onset sensory and cerebellar ataxia, remained unknown. Here, using …

Markedly expanded tandem repeats (TRs) have been correlated with~ 60 diseases. TR
diversity has been considered a clue toward understanding missing heritability. However …

Tandem repeats (TRs) represent one of the largest sources of genetic variation in humans
and are implicated in a range of phenotypes. Here we present a deep characterization of TR …

Parkinson's disease (PD) is a common neurodegenerative disorder with a significant risk
proportion driven by genetics. While much progress has been made, most of the heritability …

Tandem repeats are frequent across the human genome, and variation in repeat length has
been linked to a variety of traits. Recent improvements in long read sequencing …

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 …

Despite linkage to 16q in 1996, the mutation for spinocerebellar ataxia type 4 (SCA4), a late-
onset sensory and cerebellar ataxia, escaped detection for 25 years. Using long-read …