2018 · 13 citations · 56 references
Life SciencesBioinformaticsBiologyGenomic Data AnalysisGenomicsSequence AnalysisDna SequencingGenome SequencingNext-generation SequencingHigh-throughput Sequencing AnalysisMany-core ArchitectureMany-core ProcessorsNext-generation Sequencing Data AnalysisShort-read SequencingShort-read Variant DetectionSuitability AnalysisVariant Detection From Short Reads
High-throughput next generation sequencers (NGS) can rapidly read billions of short DNA fragments, called reads, at low cost. Moreover, their throughput is increasing and cost is decreasing at rates much faster than the Moore's law. This demands commensurate acceleration for NGS secondary analysis that process the reads to identify variations between genomes. Conventional architectural improvements can at best improve performance at the rate of Moore's law even if the software tools efficiently utilize the underlying architecture. Unfortunately, most of the dozens of software products developed for this purpose fail to exploit the underlying architecture well. Therefore, to match the pace of development of the sequencers, we will need architecture that is more tailored for the computational requirements of NGS secondary analysis as well as software that uses the architecture optimally.
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Fast and accurate short read alignment with Burrows–Wheeler transform
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Fast gapped-read alignment with Bowtie 2
Ben Langmead, Steven L. Salzberg · Nature Methods · 2012 · 61.1K citations
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text