Despite the interest in characterizing genomic variation, the presence of large repeats at the
breakpoints hinders the analysis of many structural variants. This is especially problematic …

In recent years different types of structural variants (SVs) have been discovered in the
human genome and their functional impact has become increasingly clear. Inversions …

Recent studies have revealed that insertions and deletions (indels) are more different in
their formation than previously assumed. What remains enigmatic is how the local DNA …

Identifying genomic features that differ between individuals and cells can help uncover the
functional variants that drive phenotypes and disease susceptibilities. For this, single-cell …

Small insertions and deletions (indels) are a common and functionally important type of
sequence polymorphism. Most of the focus of studies of sequence variation is on single …

The growing catalogue of structural variants in humans often overlooks inversions as one of
the most difficult types of variation to study, even though they affect phenotypic traits in …

Human-specific small insertions and deletions (HS indels, with lengths< 100 bp) are
reported to be ubiquitous in the human genome. However, whether these indels contribute …

Short insertions and deletions (indels) are the second most abundant form of human genetic
variation, but our understanding of their origins and functional effects lags behind that of …

Background Identifying insertion/deletion polymorphisms (INDELs) with high confidence has
been intrinsically challenging in short-read sequencing data. Here we report our approach …

The newest genomic advances have uncovered an unprecedented degree of structural
variation throughout genomes, with great amounts of data accumulating rapidly. Here we …