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Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species

Keith R Bradnam, Joseph N Fass, Anton Alexandrov and 88 more

Gigascience · 2013 · CC BY

doi:10.1186/2047-217x-2-10

Abstract

Background. The process of generating raw genome sequence data continues to become cheaper, faster, and more accurate. However, assembly of such data into high-quality, finished genome sequences remains challenging. Many genome assembly tools are available, but they differ greatly in terms of their performance (speed, scalability, hardware requirements, acceptance of newer read technologies) and in their final output (composition of assembled sequence). More importantly, it remains largely unclear how to best assess the quality of assembled genome sequences. The Assemblathon competitions are intended to assess current state-of-the-art methods in genome assembly.

Results. In Assemblathon 2, we provided a variety of sequence data to be assembled for three vertebrate species (a bird, a fish, and snake). This resulted in a total of 43 submitted assemblies from 21 participating teams. We evaluated these assemblies using a combination of optical map data, Fosmid sequences, and several statistical methods. From over 100 different metrics, we chose ten key measures by which to assess the overall quality of the assemblies.

Conclusions. Many current genome assemblers produced useful assemblies, containing a significant representation of their genes and overall genome structure. However, the high degree of variability between the entries suggests that there is still much room for improvement in the field of genome assembly and that approaches which work well in assembling the genome of one species may not necessarily work well for another.

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References 78

  1. 1.

    Bentley DR Whole-genome re-sequencingCurr Opin Genet Dev2006 16545552

    Not in our library10.1016/j.gde.2006.10.009

  2. 2.

    Haussler D O'Brien SJ Ryder OA Barker FK Clamp M Crawford AJ Hanner R Hanotte O Johnson WE McGuire JA Genome 10K: a proposal to obtain whole-genome sequence for 10 000 vertebrate speciesJ Hered2009 100659674

    Not in our library10.1093/jhered/esp086

  3. 3.

    i5K - ArthropodBase wikihttp://www.arthropodgenomes.org/wiki/i5K

    Not in our library

  4. 4.

    Kumar S Schiffer PH Blaxter M 959 Nematode Genomes: a semantic wiki for coordinating sequencing projectsNucleic Acids Res2012 40D1295D1300

    Not in our library10.1093/nar/gkr826

  5. 5.

    Pevzner PA Tang H Waterman MS An Eulerian path approach to DNA fragment assemblyProc Natl Acad Sci2001 9897489753

    Not in our library10.1073/pnas.171285098

  6. 6.

    Butler J MacCallum I Kleber M Shlyakhter IA Belmonte MK Lander ES Nusbaum C Jaffe DB ALLPATHS: De novo assembly of whole-genome shotgun microreadsGenome Res2008 18810820

    Not in our library10.1101/gr.7337908

  7. 7.

    Zerbino DR Birney E Velvet: algorithms for de novo short read assembly using de Bruijn graphsGenome Res2008 18821829

    Not in our library10.1101/gr.074492.107

  8. 8.

    Simpson JT Wong K Jackman SD Schein JE Jones SJM Birol I ABySS: a parallel assembler for short read sequence dataGenome Res2009 1911171123

    Not in our library10.1101/gr.089532.108

  9. 9.
  10. 10.

    Li R Fan W Tian G Zhu H He L Cai J Huang Q Cai Q Li B Bai Y Zhang Z Zhang Y Wang W Li J Wei F Li H Jian M Li J Zhang Z Nielsen R Li D Gu W Yang Z Xuan Z Ryder OA Leung FC-C Zhou Y Cao J Sun X Fu Y The sequence and de novo assembly of the giant panda genomeNature2010 463311317

    Not in our library10.1038/nature08696

  11. 11.

    Simpson JT Durbin R Efficient de novo assembly of large genomes using compressed data structuresGenome Res2011 223549556

    Not in our library10.1101/gr.126953.111

  12. 12.

    Li H Exploring single-sample SNP and INDEL calling with whole-genome de novo assemblyBioinformatics2012 2818381844

    Not in our library10.1093/bioinformatics/bts280

  13. 13.

    Miller JR Koren S Sutton G Assembly algorithms for next-generation sequencing dataGenomics2010 95315

    Not in our library10.1016/j.ygeno.2010.03.001

  14. 14.

    Henson J Tischler G Ning Z Next-generation sequencing and large genome assembliesPharmacogenomics2012 13901915

    Not in our library10.2217/pgs.12.72

  15. 15.

    Narzisi GAM Bud M Comparing de novo genome assembly: the long and short of itPLoS One2011 6e19175

    Not in our library10.1371/journal.pone.0019175

  16. 16.

    Paszkiewicz K Studholme DJ De novo assembly of short sequence readsBrief Bioinform2010 11457472

    Not in our library10.1093/bib/bbq020

  17. 17.

    Alkan C Sajjadian S Eichler EE Limitations of next-generation genome sequence assemblyNat Methods2011 86165

    Not in our library10.1038/nmeth.1527

  18. 18.

    Baker M De novo genome assembly: what every biologist should knowNat Methods2012 9333337

    Not in our library

  19. 19.

    Birney E Assemblies: the good, the bad, the uglyNat Methods2011 85960

    Not in our library10.1038/nmeth0111-59

  20. 20.

    Claros MG Bautista R Guerrero-Fernández D Benzerki H Seoane P Fernández-Pozo N Why assembling plant genome sequences is so challengingBiology2012 1439459

    Not in our library10.3390/biology1020439

  21. 21.

    Schatz MC Witkowski J McCombie WR Current challenges in de novo plant genome sequencing and assemblyGenome Biol2012 1317

    Not in our library10.1186/gb-2012-13-4-243

  22. 22.

    Schlebusch S Illing N Next generation shotgun sequencing and the challenges of de novo genome assemblySouth African Journal of Science2012 1088

    Not in our library

  23. 23.

    Bresler M Sheehan S Chan AH Song YS Telescoper: de novo assembly of highly repetitive regionsBioinformatics2012 28i311i317

    Not in our library10.1093/bioinformatics/bts399

  24. 24.

    Li YI Copley2012 Scaffolding low quality genomes using orthologous protein sequences. Bioinformatics: RR

    Not in our library10.1093/bioinformatics/bts661

  25. 25.

    Kelley D Salzberg S Detection and correction of false segmental duplications caused by genome mis-assemblyGenome Biol2010 11R28

    Not in our library10.1186/gb-2010-11-3-r28

  26. 26.

    dnGASP[http://cnag.bsc.es/]

    Not in our library

  27. 27.

    Salzberg SL Phillippy AM Zimin A Puiu D Magoc T Koren S Treangen TJ Schatz MC Delcher AL Roberts M Marçais G Pop M Yorke JA GAGE: a critical evaluation of genome assemblies and assembly algorithmsGenome Res2012 2255767

    Not in our library10.1101/gr.131383.111

  28. 28.

    Earl D Bradnam K St John J Darling A Lin D Fass J Yu HO Buffalo V Zerbino DR Diekhans M Nguyen N Ariyaratne PN Sung WK Ning Z Haimel M Simpson JT Fonseca NA Birol İ Docking TR Ho IY Rokhsar DS Chikhi R Lavenier D Chapuis G Naquin D Maillet N Schatz MC Kelley DR Phillippy AM Koren S Assemblathon 1: a competitive assessment of de novo short read assembly methodsGenome Res2011 21222441

    Not in our library10.1101/gr.126599.111

  29. 29.

    The Assemblathon[http://assemblathon.org/]

    Not in our library

  30. 30.
  31. 31.

    Howard JT Koren S Phillippy A Zhou S Schwartz D Schatz M Aboukhalil R Ward JM Li J Li B Fedrigo O Bukovnik L Wang T Wray G Rasolonjatovo I Winer R Knight JR Warren W Zhang G Jarvis ED De novo high-coverage sequencing and annotated assemblies of the budgerigar genomeGigaScience Database2013

    Not in our library10.5524/100059

  32. 32.

    Fass JN Korf IK Bradnam KR Jarvis ED Shendure J Hiatt J Kitzman JO Assembled Fosmid sequences used for assessment of Assemblathon 2 entriesGigaScience Database2013

    Not in our library10.5524/100062

  33. 33.

    Assemblathon 2 - GitHub analysis code[https://github.com/ucdavis-bioinformatics/assemblathon2-analysis]

    Not in our library

  34. 34.

    Reinhardt JA Baltrus DA Nishimura MT Jeck WR Jones CD Dangl JL De novo assembly using low-coverage short read sequence data from the rice pathogen Pseudomonas syringae pv. oryzaeGenome Res2009 19294305

    Not in our library10.1101/gr.083311.108

  35. 35.

    Brent MR Guigó R Recent advances in gene structure predictionCurr Opin Struct Biol2004 14264272

    Not in our library10.1016/j.sbi.2004.05.007

  36. 36.

    Sleator RD An overview of the current status of eukaryote gene prediction strategiesGene2010 46114

    Not in our library10.1016/j.gene.2010.04.008

  37. 37.

    Yandell M Ence D A beginner's guide to eukaryotic genome annotationNat Rev Genet2012 13329342

    Not in our library10.1038/nrg3174

  38. 38.

    Parra G Bradnam K Korf I CEGMA: a pipeline to accurately annotate core genes in eukaryotic genomesBioinformatics2007 2310611067

    Not in our library10.1093/bioinformatics/btm071

  39. 39.

    Bradnam KR Fass JN Korf IF CEGMA gene predictions for Assemblathon 2 entriesGigaScience Database2013

    Not in our library10.5524/100061

  40. 40.

    Parra G Bradnam K Ning Z Keane T Korf I Assessing the gene space in draft genomesNucleic Acids Res2009 37289297

    Not in our library10.1093/nar/gkn916

  41. 41.

    COMPASS - scripts to COMpare a DNA sequence ASSembly to a trusted reference sequence[https://github.com/jfass/compass]

    Not in our library

  42. 42.

    Dimalanta ET Lim A Runnheim R Lamers C Churas C Forrest DK de Pablo JJ Graham MD Coppersmith SN Goldstein S Schwartz DC A microfluidic system for large DNA molecule arraysAnal Chem2004 7652935301

    Not in our library10.1021/ac0496401

  43. 43.

    Valouev A Li L Liu YC Schwartz DC Yang Y Zhang Y Waterman MS Alignment of optical mapsJ Comput Biol2006 13442462

    Not in our library10.1089/cmb.2006.13.442

  44. 44.
  45. 45.

    Schnable PS Ware D Fulton RS Stein JC Wei F Pasternak S Liang C Zhang J Fulton L Graves TA The B73 maize genome: complexity, diversity, and dynamicsScience2009 32611121115

    Not in our library10.1126/science.1178534

  46. 46.

    Young ND Debellé F Oldroyd GED Geurts R Cannon SB Udvardi MK Benedito VA Mayer KFX Gouzy J Schoof H The Medicago genome provides insight into the evolution of rhizobial symbiosesNature2011 480520524

    Not in our library10.1038/nature10625

  47. 47.

    Zhou S Bechner MC Place M Churas CP Pape L Leong SA Runnheim R Forrest DK Goldstein S Livny M Validation of rice genome sequence by optical mappingBMC Genomics2007 8278

    Not in our library10.1186/1471-2164-8-278

  48. 48.

    Zhou S Wei F Nguyen J Bechner M Potamousis K Goldstein S Pape L Mehan MR Churas C Pasternak S A single molecule scaffold for the maize genomePLoS Genet2009 5e1000711

    Not in our library10.1371/journal.pgen.1000711

  49. 49.

    Teague B Waterman MS Goldstein S Potamousis K Zhou S Reslewic S Sarkar D Valouev A Churas C Kidd JM High-resolution human genome structure by single-molecule analysisProc Natl Acad Sci2010 1071084810853

    Not in our library10.1073/pnas.0914638107

  50. 50.

    Lin H Pop M On using optical maps for genome assemblyGenome Biol2011 12127

    Not in our library

  51. 51.
  52. 52.

    Rico C Turner GF Extreme microallopatric divergence in a cichlid species from Lake MalawiMol Ecol2002 1115851590

    Not in our library10.1046/j.1365-294x.2002.01537.x

  53. 53.

    Smith PF Konings AD Kornfield IRV Hybrid origin of a cichlid population in Lake Malawi: implications for genetic variation and species diversityMol Ecol2003 1224972504

    Not in our library10.1046/j.1365-294x.2003.01905.x

  54. 54.

    King RB Mullin SJ, Seigel RAPopulation and conservation geneticsSnakes: ecology and conservation. 1st edition2009 Ithaca: Cornell University Press

    Not in our library

  55. 55.

    Metassembler[http://sourceforge.net/apps/mediawiki/metassembler/index.php?title=Metassembler]

    Not in our library

  56. 56.
  57. 57.

    Alternative SOAPdenovo snake assembly[ftp://assemblathon2:e5scl4flbles@ftp.genomics.org.cn/from_BGISZ/20121220_Boa_constrictor]

    Not in our library

  58. 58.

    Harris RS Improved pairwise alignment of genomic DNA. PhD thesis. Pennsylvania State University2007

    Not in our library

  59. 59.

    Koren S Schatz MC Walenz BP Martin J Howard JT Ganapathy G Wang Z Rasko DA McCombie WR Jarvis ED Phillippy AM Hybrid error correction and de novo assembly of single-molecule sequencing readsNat Biotechnol2012 30693700

    Not in our library10.1038/nbt.2280

  60. 60.

    Boisvert S Laviolette F Corbeil J Ray: simultaneous assembly of reads from a mix of high-throughput sequencing technologiesJ Comput Biol2010 1715191533

    Not in our library10.1089/cmb.2009.0238

  61. 61.

    PRICE Genome Assembler[http://derisilab.ucsf.edu/software/price/index.html]

    Not in our library

  62. 62.

    Lander ES Linton LM Birren B Nusbaum C Zody MC Baldwin J Devon K Dewar K Doyle M FitzHugh W Funke R Gage D Harris K Heaford A Howland J Kann L Lehoczky J LeVine R McEwan P McKernan K Meldrim J Mesirov JP Miranda C Morris W Naylor J Raymond C Rosetti M Santos R Sheridan A Sougnez C Initial sequencing and analysis of the human genomeNature2001 409860921

    Not in our library10.1038/35057062

  63. 63.
  64. 64.
  65. 65.

    Vezzi F Narzisi G Mishra B Reevaluating assembly evaluations with feature response curves: GAGE and assemblathonsPLoS One2012 7e52210

    Not in our library10.1371/journal.pone.0052210

  66. 66.

    Gibbs RA Rogers J Katze MG Bumgarner R Weinstock GM Mardis ER Remington KA Strausberg RL Venter JC Wilson RK Batzer MA Bustamante CD Eichler EE Hahn MW Hardison RC Makova KD Miller W Milosavljevic A Palermo RE Siepel A Sikela JM Attaway T Bell S Bernard KE Buhay CJ Chandrabose MN Dao M Davis C Delehaunty KD Ding Y Evolutionary and Biomedical Insights from the Rhesus Macaque GenomeScience2007 316222234

    Not in our library10.1126/science.1139247

  67. 67.

    Casagrande A Del Fabbro C Scalabrin S Policriti A GAM: genomic assemblies merger: a graph based method to integrate different assembliesBioinformatics and Biomedicine, 2009. BIBM'09. IEEE International Conference on2009 321326[http://ieeexplore.ieee.org/xpl/mostRecentIssue.jsp?punumber=5341720]

    Not in our library

  68. 68.

    CLC bio[http://www.clcbio.com/]

    Not in our library

  69. 69.

    FASTGAn expressive representation for genome assemblies[http://fastg.sourceforge.net]

    Not in our library

  70. 70.

    Flicek P Amode MR Barrell D Beal K Brent S Carvalho-Silva D Clapham P Coates G Fairley S Fitzgerald S Ensembl 2012Nucleic Acids Res2012 40D84D90

    Not in our library10.1093/nar/gkr991

  71. 71.

    Kitzman JO MacKenzie AP Adey A Hiatt JB Patwardhan RP Sudmant PH Ng SB Alkan C Qiu R Eichler EE Shendure J Haplotype-resolved genome sequencing of a Gujarati Indian individualNat Biotechnol2010 2959

    Not in our library10.1038/nbt.1740

  72. 72.

    Sickle and Scythe[https://github.com/ucdavis-bioinformatics]

    Not in our library

  73. 73.

    Li H Durbin R Fast and accurate short read alignment with Burrows–Wheeler transformBioinformatics2009 2517541760

    Not in our library10.1093/bioinformatics/btp324

  74. 74.

    RepeatMasker web server[http://repeatmasker.org/cgi-bin/WEBRepeatMasker]

    Not in our library

  75. 75.

    Li H Handsaker B Wysoker A Fennell T Ruan J Homer N Marth G Abecasis G Durbin R The sequence alignment/map format and SAMtoolsBioinformatics2009 2520782079

    Not in our library10.1093/bioinformatics/btp352

  76. 76.

    Altschul SF Gish W Miller W Myers EW Lipman DJ Basic local alignment search toolJ Mol Biol1990 215403410

    Not in our library10.1016/s0022-2836(05)80360-2

  77. 77.

    SMALT - efficiently aligns DNA sequencing reads with a reference genome[http://www.sanger.ac.uk/resources/software/smalt/]

    Not in our library

  78. 78.

    Picard[http://picard.sourceforge.net/]

    Not in our library

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