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

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 …

Motivation: The discovery of genomic structural variants (SVs) at high sensitivity and
specificity is an essential requirement for characterizing naturally occurring variation and for …

Copy number variation (CNV) in the genome is a complex phenomenon, and not completely
understood. We have developed a method, CNVnator, for CNV discovery and genotyping …

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 rearrangements are thought to occur progressively during tumor development.
Recent findings, however, suggest an alternative mechanism, involving massive …

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 …

While exome sequencing is readily amenable to single-nucleotide variant discovery, the
sparse and nonuniform nature of the exome capture reaction has hindered exome-based …

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 …

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 …