PT  - JOURNAL ARTICLE
AU  - Kunal Kathuria
AU  - Aakrosh Ratan
TI  - SVXplorer: Identification of structural variants through overlap of discordant clusters
AID  - 10.1101/469981
DP  - 2018 Jan 01
TA  - bioRxiv
PG  - 469981
4099  - http://biorxiv.org/content/early/2018/11/16/469981.short
4100  - http://biorxiv.org/content/early/2018/11/16/469981.full
AB  - Motivation The identification of structural variants using short-read data remains challenging. Most approaches ignore signatures of complex variants such as those generated by trans-posable elements. This can result in lower precision and sensitivity in identification of the more common structural variants such as deletions and duplications.Results We present SVXplorer, which uses a streamlined sequential approach to integrate discordant paired-end alignments with split-reads and read depth information. We show that it outperforms several existing approaches in both reproducibility and accuracy on real and simulated datasets.Availability SVXplorer is available at https://github.com/kunalkathuria/SVXplorer.