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SAMBLASTER: fast duplicate marking and structural variant read extraction.

MOTIVATION: Illumina DNA sequencing is now the predominant source of raw genomic data, and data volumes are growing rapidly. Bioinformatic analysis pipelines are having trouble keeping pace. A common bottleneck in such pipelines is the requirement to read, write, sort and compress large BAM files multiple times. RESULTS: We present SAMBLASTER, a tool that reduces the number of times such costly operations are performed. SAMBLASTER is designed to mark duplicates in read-sorted SAM files as a piped post-pass on DNA aligner output before it is compressed to BAM. In addition, it can simultaneously output into separate files the discordant read-pairs and/or split-read mappings used for structural variant calling. As an alignment post-pass, its own runtime overhead is negligible, while dramatically reducing overall pipeline complexity and runtime. As a stand-alone duplicate marking tool, it performs significantly better than PICARD or SAMBAMBA in terms of both speed and memory usage, while achieving nearly identical results. AVAILABILITY AND IMPLEMENTATION: SAMBLASTER is open-source C+ + code and freely available for download from https://github.com/GregoryFaust/samblaster.

Pubmed ID: 24812344 RIS Download

Mesh terms: Genomic Structural Variation | Genomics | Sequence Alignment | Sequence Analysis, DNA | Software

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