Structural variation of the genome involves kilobase-to megabase-sized deletions,
duplications, insertions, inversions, and complex combinations of rearrangements. We …

Genomic structural variants (SVs) are abundant in humans, differing from other forms of
variation in extent, origin and functional impact. Despite progress in SV characterization, the …

Here we use whole-genome de novo assembly of second-generation sequencing reads to
map structural variation (SV) in an Asian genome and an African genome. Our approach …

Numerous types of DNA variation exist, ranging from SNPs to larger structural alterations
such as copy number variants (CNVs) and inversions. Alignment of DNA sequence from …

Understanding the prevailing mutational mechanisms responsible for human genome
structural variation requires uniformity in the discovery of allelic variants and precision in …

Structural variants (SVs) are a major source of human genomic variation; however,
characterizing them at nucleotide resolution remains challenging. Here we assemble a …

INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …

Large structural variants (SVs) in the human genome are difficult to detect and study by
conventional sequencing technologies. With long-range genome analysis platforms, such as …

The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a …

The extent of human genomic structural variation suggests that there must be portions of the
genome yet to be discovered, annotated and characterized at the sequence level. We …