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Integrating Hi-C links with assembly graphs for chromosome-scale assembly

PLoS Computational Biology · 2019 · Vol. 15(8) · pp. e1007273–e1007273
Jay GhuryeArang RhieBrian P. WalenzAnthony D. SchmittSiddarth SelvarajMihai PopAdam M. PhillippySergey Koren

Abstract

Long-read sequencing and novel long-range assays have revolutionized de novo genome assembly by automating the reconstruction of reference-quality genomes. In particular, Hi-C sequencing is becoming an economical method for generating chromosome-scale scaffolds. Despite its increasing popularity, there are limited open-source tools available. Errors, particularly inversions and fusions across chromosomes, remain higher than alternate scaffolding technologies. We present a novel open-source Hi-C scaffolder that does not require an a priori estimate of chromosome number and minimizes errors by scaffolding with the assistance of an assembly graph. We demonstrate higher accuracy than the state-of-the-art methods across a variety of Hi-C library preparations and input assembly sizes. The Python and C++ code for our method is openly available at https://github.com/machinegun/SALSA.

Genomics and Phylogenetic StudiesChromosomal and Genetic VariationsRNA and protein synthesis mechanismsPython (programming language)Computer scienceSequence assemblyOpen sourceChromosomeComputational biologyGenomeSource codeBiologyGenetics

MeSH terms

AlgorithmsAnimalsChromosomes, HumanComputer SimulationHumansSoftwareGenomic LibraryGenome, HumanSequence Analysis, DNAComputational BiologyGenomicsDatabases, Nucleic AcidHigh-Throughput Nucleotide Sequencing

Funding

  • Korea Health Industry Development Institute
  • National Institutes of Health
  • National Human Genome Research Institute
Citations
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