PLoS Computational Biology · 2019 · 763 citations · 49 references
Life SciencesBiologyGeneticsGenome AssemblyGenome OrganizationGenomicsContig ConstructionDe Novo Genome AssemblyDna SequencingGenome SequencingLong-read AssemblyScaffold ConstructionAccuracyAssembly GraphsChromosome-level ScaffoldingChromosome-scale AssemblyHi-cHi-c Based ScaffoldingHi-c ScaffoldingScaffold Assembly
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.
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Fast and accurate short read alignment with Burrows–Wheeler transform
Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text
Topological domains in mammalian genomes identified by analysis of chromatin interactions
Jesse R. Dixon, Siddarth Selvaraj, Feng Yue et al. · Nature · 2012 · 7.4K citations · Full text
Assembly of long, error-prone reads using repeat graphs
Mikhail Kolmogorov, Jeffrey Yuan, Yu Lin et al. · Nature Biotechnology · 2019 · 6.3K citations