Repetitive DNA sequences are abundant in a broad range of species, from bacteria to
mammals, and they cover nearly half of the human genome. Repeats have always …

The discovery of genetic variation and the assembly of genome sequences are both
inextricably linked to advances in DNA-sequencing technology. Short-read massively …

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 …

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 …

Motivation A clear identification of the primary site of tumor is of great importance to the next
targeted site-specific treatments and could efficiently improve patient's overall survival. Even …

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 …

Nucleic acid aptamers can be selected from pools of random-sequence oligonucleotides to
bind a wide range of biomedically relevant proteins with affinities and specificities that are …

Copy number variation (CNV) is a prevalent form of critical genetic variation that leads to an
abnormal number of copies of large genomic regions in a cell. Microarray-based …

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 …

The emergence of next-generation sequencing platforms led to resurgence of research in
whole-genome shotgun assembly algorithms and software. DNA sequencing data from the …