Recent research into structural variants (SVs) has established their importance to medicine
and molecular biology, elucidating their role in various diseases, regulation of gene …

With the recent burst of technological developments in genomics, and the clinical
implementation of genome-wide assays, our understanding of the molecular basis of …

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

Abstract Background Structural variations (SVs) or copy number variations (CNVs) greatly
impact the functions of the genes encoded in the genome and are responsible for diverse …

Abstract The 1000 Genomes Project aims to provide a deep characterisation of human
genome sequence variation as a foundation for investigating the relationship between …

Personalized medicine is expected to benefit from combining genomic information with
regular monitoring of physiological states by multiple high-throughput methods. Here, we …

Comparisons of human genomes show that more base pairs are altered as a result of
structural variation—including copy number variation—than as a result of point mutations …

Genomic rearrangements are thought to occur progressively during tumor development.
Recent findings, however, suggest an alternative mechanism, involving massive …

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 …

Structural variations (SVs) including gene presence/absence variations and copy number
variations are a common feature of genomes in plants and, together with single nucleotide …