Structural variants (SVs), including small insertion and deletion variants (indels), are
challenging to detect through standard alignment-based variant calling methods. Sequence …

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

Assemblytics is a web app for detecting and analyzing variants from a de novo genome
assembly aligned to a reference genome. It incorporates a unique anchor filtering approach …

MUM&Co is a single bash script to detect structural variations (SVs) utilizing whole-genome
alignment (WGA). Using MUMmer's nucmer alignment, MUM&Co can detect insertions …

Motivation With the availability of new sequencing technologies, the generation of haplotype-
resolved genome assemblies up to chromosome scale has become feasible. These …

Motivation: The development of high-throughput sequencing technologies has enabled
novel methods for detecting structural variants (SVs). Current methods are typically based …

Motivation: In the past few years, human genome structural variation discovery has enjoyed
increased attention from the genomics research community. Many studies were published to …

Somatic structural variants (SVs), which are variants that typically impact> 50 nucleotides,
play a significant role in cancer development and evolution but are notoriously more difficult …

We present novoBreak, a genome-wide local assembly algorithm that discovers somatic and
germline structural variation breakpoints in whole-genome sequencing data. novoBreak …

Structural variations (SVs) are large genomic rearrangements that vary significantly in size,
making them challenging to detect with the relatively short reads from next-generation …