Ontology highlight
ABSTRACT:
SUBMITTER: Kathuria K
PROVIDER: S-EPMC7100977 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Kathuria Kunal K Ratan Aakrosh A
PLoS computational biology 20200317 3
The identification of structural variants using short-read data remains challenging. Most approaches that use discordant paired-end sequences ignore non-trivial signatures presented by variants containing 3 breakpoints, such as those generated by various copy-paste and cut-paste mechanisms. This can result in lower precision and sensitivity in the identification of the more common structural variants such as deletions and duplications. We present SVXplorer, which uses a graph-based clustering ap ...[more]