Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …

Structural and quantitative chromosomal rearrangements, collectively referred to as
structural variation (SV), contribute to a large extent to the genetic diversity of the human …

Structural variants (SVs) rearrange large segments of DNA and can have profound
consequences in evolution and human disease,. As national biobanks, disease-association …

Since the early days of the genome era, the scientific community has relied on a single
'reference'genome for each species, which is used as the basis for a wide range of genetic …

A key goal of whole-genome sequencing for studies of human genetics is to interrogate all
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …

Low-cost whole-genome assembly has enabled the collection of haplotype-resolved
pangenomes for numerous organisms. In turn, this technological change is encouraging the …

We used a deeply sequenced dataset of 910 individuals, all of African descent, to construct
a set of DNA sequences that is present in these individuals but missing from the reference …

Despite improvements in genomics technology, the detection of structural variants (SVs)
from short-read sequencing still poses challenges, particularly for complex variation. Here …

The reference human genome sequence is inarguably the most important and widely used
resource in the fields of human genetics and genomics. It has transformed the conduct of …

A cattle pangenome representation was created based on the genome sequences of 898
cattle representing 57 breeds. The pangenome identified 83 Mb of sequence not found in …