Computational and Structural Biotechnology Journal · 2017 · 50 citations · 16 references
Life SciencesBioinformaticsGeneticsGenome AssemblyGenomic Data AnalysisGenomicsDe Novo Genome AssemblyDna SequencingGenome SequencingNext-generation SequencingShort-read AssemblyVariant AnalysisHaplotype PhasingIntegration Of Multiple DatasetsLibrary PreparationLinked-read Haplotype AssemblyLinked-read PhasingShort-read Genome AssemblyShort-read SequencingVariant Calling From Short Reads
Linked-read sequencing, using highly-multiplexed genome partitioning and barcoding, can span hundreds of kilobases to improve de novo assembly, haplotype phasing, and other applications. Based on our analysis of 14 datasets, we introduce LRSim that simulates linked-reads by emulating the library preparation and sequencing process with fine control over variants, linked-read characteristics, and the short-read profile. We conclude from the phasing and assembly of multiple datasets, recommendations on coverage, fragment length, and partitioning when sequencing genomes of different sizes and complexities. These optimizations improve results by orders of magnitude, and enable the development of novel methods. LRSim is available at https://github.com/aquaskyline/LRSIM.
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The Sequence Alignment/Map format and SAMtools
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