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 …

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 …

Detecting genetic variants that are highly divergent from a reference sequence remains a
major challenge in genome sequencing. We introduce de novo assembly algorithms using …

Detection and characterization of genomic structural variation are important for
understanding the landscape of genetic variation in human populations and in complex …

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 …

Most of the human genome consists of non-protein-coding DNA. Recently, progress has
been made in annotating these non-coding regions through the interpretation of functional …

The advent of next generation sequencing (NGS) technologies has revolutionized the field
of genomics, enabling fast and cost-effective generation of genome-scale sequence data …

In the last several years, a number of studies have described large-scale structural variation
in several genomes. Traditionally, such methods have used whole-genome array …

Copy number variations (CNVs) affect a wide range of phenotypic traits; however, CNVs in
or near segmental duplication regions are often intractable. Using a read depth approach …

Short tandem repeats (STRs) are hyper-mutable sequences in the human genome. They are
often used in forensics and population genetics and are also the underlying cause of many …