Breakpointer
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Application data |
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| Created by | Sun R |
|---|---|
| Biological application domain(s) | Exome and whole genome variant detection, Indel detection |
| Principal bioinformatics method(s) | Statistical calculation |
| Created at | Max-Planck-Institute for Molecular Genetics |
| Maintained? | Yes |
| Input format(s) | BAM |
| Output format(s) | GFF, GFF3 |
| Programming language(s) | C++, Perl |
| Licence | GPL |
| Contact: | breakpointer-help@broadinstitute.org |
Summary: Breakpointer is a fast tool for locating sequence breakpoints from the alignment of single end reads (SE) produced by next generation sequencing (NGS). It adopts a heuristic method in searching for local mapping signatures created by insertion/deletions (indels) or more complex structural variants(SVs). With current NGS single-end sequencing data, the output regions by Breakpoint mainly contain the approximate breakpoints of indels and a limited number of large SVs.
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