Author(s): Sun R, Love MI, Zemojtel T, Emde AK, Chung HR,
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Abstract SUMMARY: We developed Breakpointer, a fast algorithm to locate breakpoints of structural variants (SVs) from single-end reads produced by next-generation sequencing. By taking advantage of local non-uniform read distribution and misalignments created by SVs, Breakpointer scans the alignment of single-end reads to identify regions containing potential breakpoints. The detection of such breakpoints can indicate insertions longer than the read length and SVs located in repetitve regions which might be missd by other methods. Thus, Breakpointer complements existing methods to locate SVs from single-end reads. AVAILABILITY: https://github.com/ruping/Breakpointer CONTACT: [email protected]
SUPPLEMENTARY INFORMATION: Supplementary material is available at Bioinformatics online.
This article was published in Bioinformatics
and referenced in Journal of Next Generation Sequencing & Applications