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

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 …

Accumulating evidence indicates that DNA copy number variation (CNV) is likely to make a
significant contribution to human diversity and also play an important role in disease …

Structural variations (SVs) are mutations in the genome of size at least fifty nucleotides. They
contribute to the phenotypic differences among healthy individuals, cause severe diseases …

Copy number variants (CNVs) are intermediate-scale structural variants containing copy
number changes involving DNA fragments of between 1 kb and 5 Mb. Although known to …

Plant genome diversity varies from single nucleotide polymorphisms to large-scale
deletions, insertions, duplications, or re-arrangements. These re-arrangements of …

Exome sequencing (ES) is a recommended first-tier diagnostic test for many rare monogenic
diseases. It allows for the detection of both single-nucleotide variants (SNVs) and copy …

Structural variation (SV) plays an important role in genetic diversity among the population in
general and specifically in diseases such as cancer. Modern next-generation sequencing …

Simple Summary Precise identification and annotation of mutations are of utmost importance
in clinical oncology. Insights of the DNA sequence can provide meaningful knowledge to …

Genomic structural variation (SV) affects genetic and phenotypic characteristics in diverse
organisms, but the lack of reliable methods to detect SV has hindered genetic analysis. We …