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A method to identify structural variation from sequencing data in target regions

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BreaKmer

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.

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

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A method to identify structural variation from sequencing data in target regions

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