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PMID: 31661016 Published · epublish English Evaluation Study Journal Article Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S.

RaGOO: fast and accurate reference-guided scaffolding of draft genomes.

Genome biology ·Vol. 20 ·No. 1 ·2019-00-28 ·Pages 224

Alonge M, Soyk S, Ramakrishnan S, Wang X, Goodwin S, Sedlazeck FJ, Lippman ZB, Schatz MC

Abstract

We present RaGOO, a reference-guided contig ordering and orienting tool that leverages the speed and sensitivity of Minimap2 to accurately achieve chromosome-scale assemblies in minutes. After the pseudomolecules are constructed, RaGOO identifies structural variants, including those spanning sequencing gaps. We show that RaGOO accurately orders and orients 3 de novo tomato genome assemblies, including the widely used M82 reference cultivar. We then demonstrate the scalability and utility of RaGOO with a pan-genome analysis of 103 Arabidopsis thaliana accessions by examining the structural variants detected in the newly assembled pseudomolecules. RaGOO is available open source at https://github.com/malonge/RaGOO .

Keywords
Genome alignment Genome assembly Long-read sequencing Pseudomolecule Reference-guided Scaffolding Tomato
MeSH Terms
Arabidopsis/genetics Genome, Plant Genomic Structural Variation Genomics/methods Lycopersicon esculentum/genetics Software
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Alonge Michael
Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
Soyk Sebastian
Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
Ramakrishnan Srividya
Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
Wang Xingang
Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
Goodwin Sara
Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
Sedlazeck Fritz J
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Lippman Zachary B
Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA. | Cold Spring Harbor Laboratory, Howard Hughes Medical Institute, Cold Spring Harbor, NY, USA.
Schatz Michael C ORCID
Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA. [email protected]. | Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA. [email protected]. | Department of Biology, Johns Hopkins University, Baltimore, MD, USA. [email protected].
References (54)
54 references, click to expand
  1. Analysis of the genome sequence of the flowering plant Arabidopsis thaliana.
    Nature. 2000 Dec 14;408(6814):796-815 PMID: 11130711
  2. Fast and accurate short read alignment with Burrows-Wheeler transform.
    Bioinformatics. 2009 Jul 15;25(14):1754-60 PMID: 19451168
  3. Comprehensive mapping of long-range interactions reveals folding principles of the human genome.
    Science. 2009 Oct 9;326(5950):289-93 PMID: 19815776
  4. Direct determination of diploid genome sequences.
    Genome Res. 2017 May;27(5):757-767 PMID: 28381613
  5. Reference-assisted chromosome assembly.
    Proc Natl Acad Sci U S A. 2013 Jan 29;110(5):1785-90 PMID: 23307812
  6. De novo assembly of the Aedes aegypti genome using Hi-C yields chromosome-length scaffolds.
    Science. 2017 Apr 7;356(6333):92-95 PMID: 28336562
  7. Scaffolding of long read assemblies using long range contact information.
    BMC Genomics. 2017 Jul 12;18(1):527 PMID: 28701198
  8. Improved maize reference genome with single-molecule technologies.
    Nature. 2017 Jun 22;546(7659):524-527 PMID: 28605751
  9. Versatile and open software for comparing large genomes.
    Genome Biol. 2004;5(2):R12 PMID: 14759262
  10. InterProScan 5: genome-scale protein function classification.
    Bioinformatics. 2014 May 1;30(9):1236-40 PMID: 24451626
  11. Chromosomer: a reference-based genome arrangement tool for producing draft chromosome sequences.
    Gigascience. 2016 Aug 22;5(1):38 PMID: 27549770
  12. Rewiring of the Fruit Metabolome in Tomato Breeding.
    Cell. 2018 Jan 11;172(1-2):249-261.e12 PMID: 29328914
  13. Chromosome assembly of large and complex genomes using multiple references.
    Genome Res. 2018 Nov;28(11):1720-1732 PMID: 30341161
  14. BUSCO: assessing genome assembly and annotation completeness with single-copy orthologs.
    Bioinformatics. 2015 Oct 1;31(19):3210-2 PMID: 26059717
  15. MAKER: an easy-to-use annotation pipeline designed for emerging model organism genomes.
    Genome Res. 2008 Jan;18(1):188-96 PMID: 18025269
  16. High contiguity Arabidopsis thaliana genome assembly with a single nanopore flow cell.
    Nat Commun. 2018 Feb 7;9(1):541 PMID: 29416032
  17. Hierarchical scaffolding with Bambus.
    Genome Res. 2004 Jan;14(1):149-59 PMID: 14707177
  18. UniProt: the universal protein knowledgebase.
    Nucleic Acids Res. 2017 Jan 4;45(D1):D158-D169 PMID: 27899622
  19. StringTie enables improved reconstruction of a transcriptome from RNA-seq reads.
    Nat Biotechnol. 2015 Mar;33(3):290-5 PMID: 25690850
  20. Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome.
    Nat Biotechnol. 2019 Oct;37(10):1155-1162 PMID: 31406327
  21. Canu: scalable and accurate long-read assembly via adaptive k-mer weighting and repeat separation.
    Genome Res. 2017 May;27(5):722-736 PMID: 28298431
  22. The genome of the stress-tolerant wild tomato species Solanum pennellii.
    Nat Genet. 2014 Sep;46(9):1034-8 PMID: 25064008
  23. Juicebox Provides a Visualization System for Hi-C Contact Maps with Unlimited Zoom.
    Cell Syst. 2016 Jul;3(1):99-101 PMID: 27467250
  24. Fast gapped-read alignment with Bowtie 2.
    Nat Methods. 2012 Mar 04;9(4):357-9 PMID: 22388286
  25. Genome assembly and annotation of a Drosophila simulans strain from Madagascar.
    Mol Ecol Resour. 2015 Mar;15(2):372-81 PMID: 24961367
  26. GMAP: a genomic mapping and alignment program for mRNA and EST sequences.
    Bioinformatics. 2005 May 1;21(9):1859-75 PMID: 15728110
  27. Exploring genetic variation in the tomato (Solanum section Lycopersicon) clade by whole-genome sequencing.
    Plant J. 2014 Oct;80(1):136-48 PMID: 25039268
  28. TACO produces robust multisample transcriptome assemblies from RNA-seq.
    Nat Methods. 2017 Jan;14(1):68-70 PMID: 27869815
  29. Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast.
    Nat Commun. 2017 Jan 24;8:14061 PMID: 28117401
  30. SPAdes: a new genome assembly algorithm and its applications to single-cell sequencing.
    J Comput Biol. 2012 May;19(5):455-77 PMID: 22506599
  31. STAR: ultrafast universal RNA-seq aligner.
    Bioinformatics. 2013 Jan 1;29(1):15-21 PMID: 23104886
  32. Integrating Hi-C links with assembly graphs for chromosome-scale assembly.
    PLoS Comput Biol. 2019 Aug 21;15(8):e1007273 PMID: 31433799
  33. The tomato genome sequence provides insights into fleshy fruit evolution.
    Nature. 2012 May 30;485(7400):635-41 PMID: 22660326
  34. The 1001 genomes project for Arabidopsis thaliana.
    Genome Biol. 2009;10(5):107 PMID: 19519932
  35. ALLMAPS: robust scaffold ordering based on multiple maps.
    Genome Biol. 2015 Jan 13;16:3 PMID: 25583564
  36. NextGenMap: fast and accurate read mapping in highly polymorphic genomes.
    Bioinformatics. 2013 Nov 1;29(21):2790-1 PMID: 23975764
  37. Nanopore sequencing and assembly of a human genome with ultra-long reads.
    Nat Biotechnol. 2018 Apr;36(4):338-345 PMID: 29431738
  38. De novo assembly and annotation of three Leptosphaeria genomes using Oxford Nanopore MinION sequencing.
    Sci Data. 2018 Nov 06;5:180235 PMID: 30398473
  39. Piercing the dark matter: bioinformatics of long-range sequencing and mapping.
    Nat Rev Genet. 2018 Jun;19(6):329-346 PMID: 29599501
  40. Mind the gap: upgrading genomes with Pacific Biosciences RS long-read sequencing technology.
    PLoS One. 2012;7(11):e47768 PMID: 23185243
  41. Pilon: an integrated tool for comprehensive microbial variant detection and genome assembly improvement.
    PLoS One. 2014 Nov 19;9(11):e112963 PMID: 25409509
  42. A complete bacterial genome assembled de novo using only nanopore sequencing data.
    Nat Methods. 2015 Aug;12(8):733-5 PMID: 26076426
  43. Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions.
    Nat Biotechnol. 2013 Dec;31(12):1119-25 PMID: 24185095
  44. De Novo Assembly of a New Solanum pennellii Accession Using Nanopore Sequencing.
    Plant Cell. 2017 Oct;29(10):2336-2348 PMID: 29025960
  45. The Sequence Alignment/Map format and SAMtools.
    Bioinformatics. 2009 Aug 15;25(16):2078-9 PMID: 19505943
  46. Cactus: Algorithms for genome multiple sequence alignment.
    Genome Res. 2011 Sep;21(9):1512-28 PMID: 21665927
  47. Minimap2: pairwise alignment for nucleotide sequences.
    Bioinformatics. 2018 Sep 15;34(18):3094-3100 PMID: 29750242
  48. A new strategy for genome sequencing.
    Nature. 1996 May 30;381(6581):364-6 PMID: 8632789
  49. BEDTools: a flexible suite of utilities for comparing genomic features.
    Bioinformatics. 2010 Mar 15;26(6):841-2 PMID: 20110278
  50. Basic local alignment search tool.
    J Mol Biol. 1990 Oct 5;215(3):403-10 PMID: 2231712
  51. Assemblytics: a web analytics tool for the detection of variants from an assembly.
    Bioinformatics. 2016 Oct 1;32(19):3021-3 PMID: 27318204
  52. Genomic variation in tomato, from wild ancestors to contemporary breeding accessions.
    BMC Genomics. 2015 Apr 01;16:257 PMID: 25880392
  53. Epigenomic Diversity in a Global Collection of Arabidopsis thaliana Accessions.
    Cell. 2016 Jul 14;166(2):492-505 PMID: 27419873
  54. Whole-genome sequencing of multiple Arabidopsis thaliana populations.
    Nat Genet. 2011 Aug 28;43(10):956-63 PMID: 21874002
Article Info
Journal
Genome biology
Abbr.
Genome Biol
ISSN
1474-760X
Published
2019-00-28
Epub
2019-00-28
Pages
224
Language
English
Region
England
NLM ID
100960660
PMCID
PMC6816165
Subset
IM
Grants
NIH HHS · R01-HG006677 · United States
NIH HHS · UM1 HG008898 · United States
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