Department of Computational Molecular Biology, Max-Planck-Institute for Molecular Genetics, Ihnestr. 63-73, 14195 Berlin, Germany.
Bioinformatics. 2012 Apr 1;28(7):1024-5. doi: 10.1093/bioinformatics/bts064. Epub 2012 Feb 1.
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.
https://github.com/ruping/Breakpointer
Supplementary material is available at Bioinformatics online.
我们开发了 Breakpointer，这是一种从下一代测序产生的单端读取中定位结构变异 (SV) 断点的快速算法。通过利用 SV 产生的局部非均匀读分布和错配，Breakpointer 扫描单端读的比对以识别包含潜在断点的区域。这些断点的检测可以指示插入片段长度超过读取长度，以及其他方法可能错过的位于重复区域的 SV。因此，Breakpointer 补充了现有的从单端读取中定位 SV 的方法。
https://github.com/ruping/Breakpointer
补充材料可在Bioinformatics 在线获得。
