A method to identify genomic structural variation in target regions/genes from reference-aligned high-throughput sequence data. It uses a “kmer” strategy to assemble misaligned sequence reads for predicting insertions, deletions, inversions, tandem duplications, and translocations at base-pair resolution.

Please use the released version v0.0.6. The master branch and the protype releases have not passed our internal QC and validation and should be considered unstable. Support for unstable releases is not available.

Documentation: https://github.com/ccgd-profile/BreaKmer