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 …

Inversions, deletions and insertions are important mediators of disease and disease
susceptibility. We systematically compared the human genome reference sequence with a …

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

Mutation of the human genome results in three classes of genomic variation: single
nucleotide variants; short insertions or deletions; and large structural variants (SVs). Some …

Small insertions and deletions (indels) and large structural variations (SVs) are major
contributors to human genetic diversity and disease. However, mutation rates and …

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 …

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 …

Population genetics is central to our understanding of human variation, and by linking
medical and evolutionary themes, it enables us to understand the origins and impacts of our …

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 …