SAMBLASTER: Fast duplicate marking and structural variant read extraction

Gregory G. Faust, Ira M. Hall

Research output: Contribution to journalArticlepeer-review

309 Scopus citations

Abstract

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 postpass 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.

Original languageEnglish
Pages (from-to)2503-2505
Number of pages3
JournalBioinformatics
Volume30
Issue number17
DOIs
StatePublished - Sep 1 2014

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