Breakway

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Application data

Created by Clark, MJ
Biological application domain(s) Whole genome resequencing, Genomics, Structural variation, Indel detection, Genetic variation
Principal bioinformatics method(s) Sequence analysis, SNP calling
Technology ABI SOLiD, Illumina, 454, Sanger
Created at UCLA, Stanley F. Nelson Lab, Department of Human Genetics

Sourceforge

Maintained? Yes
Input format(s) BAM
Output format(s) TXT
Software features Fast, specific, UNIX pipes
Programming language(s) Perl
Interface type(s) Command line
Resource type(s) Command-line tool
Licence GPL
Operating system(s) Linux, Mac OS X, Windows

Summary: Breakway is a suite of programs that take aligned genomic data and report structural variation breakpoints.

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Software features include:

  • Takes in BAM formatted input, the current standard for genomic alignments.
  • Compatible with standard output from major alignment algorithms such as BFAST, BWA, MAQ, et cetera.
  • Capable of analyzing data from any major platform--Solexa, SOLiD, 454, et cetera.
  • Empirically identifies structural variation breakpoints.
  • Highly specific analysis generates very few false positives.
  • Includes a suite of downstream tools for annotating identified breakpoints and reducing false positives.

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