Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …

As long-read sequencing technologies are becoming increasingly popular, a number of
methods have been developed for the discovery and analysis of structural variants (SVs) …

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 …

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 …

We present the first comprehensive analysis of a diploid human genome that combines
single-molecule sequencing with single-molecule genome maps. Our hybrid assembly …

The recent breakthroughs in assembling long error-prone reads were based on the overlap-
layout-consensus (OLC) approach and did not utilize the strengths of the alternative de …

Expansions of gene-specific DNA tandem repeats (TRs), first described in 1991 as a
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …

Short tandem repeats (STRs) are hyper-mutable sequences in the human genome. They are
often used in forensics and population genetics and are also the underlying cause of many …

As sequencing technologies become more affordable, it is now realistic to propose studying
the evolutionary history of virtually any organism on a genomic scale. However, when …

Variation in the antibody response has been linked to differential outcomes in disease, and
suboptimal vaccine and therapeutic responsiveness, the determinants of which have not …