Abstract
The process of sequence assembly in the next-generation environment is broken down into five stages. We introduced all these stages in Chap. 8. Here, we will discuss four of these stages in detail and present the different approaches followed in each of them. Additionally, we will debate the challenges that face each stage and their stage-specific implementation approaches. The fifth stage, the assessment of the assembly, will be discussed separately in Chap. 10.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Pevzner PA, Tang H, Waterman MS (2001) An Eulerian path approach to DNA fragment assembly. Proceedings of the National Academy of Sciences of the United States of America 98 (17):9748-9753. doi:10.1073/pnas.171285098
Vyahhi N, Pyshkin A, Pham S, Pevzner P (2012) From de Bruijn Graphs to Rectangle Graphs for Genome Assembly. In: Raphael B, Tang J (eds) Algorithms in Bioinformatics, vol 7534. Lecture Notes in Computer Science. Springer Berlin Heidelberg, pp 249-261. doi:10.1007/978-3-642-33122-0_20
Martin JA, Wang Z (2011) Next-generation transcriptome assembly. Nature reviews Genetics 12 (10):671-682. doi:10.1038/nrg3068
Pop M, Phillippy A, Delcher AL, Salzberg SL (2004) Comparative genome assembly. Briefings in bioinformatics 5 (3):237-248
Kelley DR, Schatz MC, Salzberg SL (2010) Quake: quality-aware detection and correction of sequencing errors. Genome Biol 11 (11):R116. doi:10.1186/gb-2010-11-11-r116
Yang X, Dorman KS, Aluru S (2010) Reptile: representative tiling for short read error correction. Bioinformatics 26 (20):2526-2533. doi:10.1093/bioinformatics/btq468
Medvedev P, Scott E, Kakaradov B, Pevzner P (2011) Error correction of high-throughput sequencing datasets with non-uniform coverage. Bioinformatics 27 (13):i137-i141. doi:10.1093/bioinformatics/btr208
Schroder J, Schroder H, Puglisi SJ, Sinha R, Schmidt B (2009) SHREC: a short-read error correction method. Bioinformatics 25 (17):2157-2163. doi:10.1093/bioinformatics/btp379
Ilie L, Fazayeli F, Ilie S (2011) HiTEC: accurate error correction in high-throughput sequencing data. Bioinformatics 27 (3):295-302. doi:10.1093/bioinformatics/btq653
Salmela L, Schroder J (2011) Correcting errors in short reads by multiple alignments. Bioinformatics 27 (11):1455-1461. doi:10.1093/bioinformatics/btr170
Needleman SB, Wunsch CD (1970) A general method applicable to the search for similarities in the amino acid sequence of two proteins. J Mol Biol 48 (3):443-453. doi:0022-2836(70)90057-4
Kao WC, Chan AH, Song YS (2011) ECHO: a reference-free short-read error correction algorithm. Genome research 21 (7):1181-1192. doi:10.1101/gr.111351.110
Zhang Q, Pell J, Canino-Koning R, Chuang Howe CA, Brown T (under review) These are not the k-mers you are looking for: efficient online k-mer counting using a probabilistic data structure. Preprint arXiv: 1309:2975. In review, PloS One
Yang X, Chockalingam SP, Aluru S (2013) A survey of error-correction methods for next-generation sequencing. Briefings in bioinformatics 14 (1):56-66. doi:10.1093/bib/bbs015
Medvedev P, Brudno M (2009) Maximum likelihood genome assembly. J Comput Biol 16 (8):1101-1116. doi:10.1089/cmb.2009.0047
Medvedev P, Georgiou K, Myers G, Brudno M (2007) Computability of Models for Sequence Assembly. In: Giancarlo R, Hannenhalli S (eds) Algorithms in Bioinformatics, vol 4645. Lecture Notes in Computer Science. Springer Berlin Heidelberg, pp 289-301. doi:10.1007/978-3-540-74126-8_27
DiGuistini S, Liao NY, Platt D, Robertson G, Seidel M et al. (2009) De novo genome sequence assembly of a filamentous fungus using Sanger, 454 and Illumina sequence data. Genome Biol 10 (9):R94. doi:10.1186/gb-2009-10-9-r94
Hernandez D, Francois P, Farinelli L, Osteras M, Schrenzel J (2008) De novo bacterial genome sequencing: Millions of very short reads assembled on a desktop computer. Genome research 18 (5):802-809. doi:10.1101/gr.072033.107
Hossain M, Azimi N, Skiena S (2009) Crystallizing short-read assemblies around seeds. BMC bioinformatics 10 (Suppl 1):S16. doi:10.1186/1471-2105-10-s1-s16
Margulies M, Egholm M, Altman WE, Attiya S, Bader JS et al. (2005) Genome sequencing in microfabricated high-density picolitre reactors. Nature 437 (7057):376-380. doi:nature03959
Miller JR, Delcher AL, Koren S, Venter E, Walenz BP et al. (2008) Aggressive assembly of pyrosequencing reads with mates. Bioinformatics 24 (24):2818-2824. doi:10.1093/bioinformatics/btn548
Myers EW, Sutton GG, Delcher AL, Dew IM, Fasulo DP et al. (2000) A whole-genome assembly of Drosophila. Science 287 (5461):2196-2204
Myers EW (2005) The fragment assembly string graph. Bioinformatics 21 Suppl 2:ii79-85. doi:21/suppl_2/ii79
Gonnella G, Kurtz S (2012) Readjoiner: a fast and memory efficient string graph-based sequence assembler. BMC bioinformatics 13:82. doi:10.1186/1471-2105-13-82
Simpson JT, Durbin R (2010) Efficient construction of an assembly string graph using the FM-index. Bioinformatics 26 (12):i367-373. doi:10.1093/bioinformatics/btq217
Simpson JT, Durbin R (2012) Efficient de novo assembly of large genomes using compressed data structures. Genome research 22 (3):549-556. doi:10.1101/gr.126953.111
Butler J, MacCallum I, Kleber M, Shlyakhter IA, Belmonte MK et al. (2008) ALLPATHS: de novo assembly of whole-genome shotgun microreads. Genome research 18 (5):810-820. doi:10.1101/gr.7337908
Chaisson M, Pevzner P, Tang H (2004) Fragment assembly with short reads. Bioinformatics 20 (13):2067-2074. doi:10.1093/bioinformatics/bth205
Chaisson MJ, Brinza D, Pevzner PA (2009) De novo fragment assembly with short mate-paired reads: Does the read length matter? Genome research 19 (2):336-346. doi:10.1101/gr.079053.108
Chaisson MJ, Pevzner PA (2008) Short read fragment assembly of bacterial genomes. Genome research 18 (2):324-330. doi:10.1101/gr.7088808
Li R, Zhu H, Ruan J, Qian W, Fang X et al. (2010) De novo assembly of human genomes with massively parallel short read sequencing. Genome research 20 (2):265-272. doi:10.1101/gr.097261.109
Maccallum I, Przybylski D, Gnerre S, Burton J, Shlyakhter I et al. (2009) ALLPATHS 2: small genomes assembled accurately and with high continuity from short paired reads. Genome Biol 10 (10):R103. doi:10.1186/gb-2009-10-10-r103
Simpson JT, Wong K, Jackman SD, Schein JE, Jones SJ et al. (2009) ABySS: a parallel assembler for short read sequence data. Genome research 19 (6):1117-1123. doi:10.1101/gr.089532.108
Zerbino DR, Birney E (2008) Velvet: Algorithms for de novo short read assembly using de Bruijn graphs. Genome research 18 (5):821-829. doi:10.1101/gr.074492.107
Ye C, Ma ZS, Cannon CH, Pop M, Yu DW (2012) Exploiting sparseness in de novo genome assembly. BMC bioinformatics 13 Suppl 6:S1. doi:10.1186/1471-2105-13-S6-S1
Conway TC, Bromage AJ (2011) Succinct data structures for assembling large genomes. Bioinformatics 27 (4):479-486. doi:10.1093/bioinformatics/btq697
Bowe A, Onodera T, Sadakane K, Shibuya T (2012) Succinct de Bruijn Graphs. In: Raphael B, Tang J (eds) Algorithms in Bioinformatics, vol 7534. Lecture Notes in Computer Science. Springer Berlin Heidelberg, pp 225-235. doi:10.1007/978-3-642-33122-0_18
Chikhi R, Rizk G (2012) Space-Efficient and Exact de Bruijn Graph Representation Based on a Bloom Filter. In: Raphael B, Tang J (eds) Algorithms in Bioinformatics, vol 7534. Lecture Notes in Computer Science. Springer Berlin Heidelberg, pp 236-248. doi:10.1007/978-3-642-33122-0_19
Salikhov K, Sacomoto G, Kucherov G (Submitted) Using cascading Bloom filters to improve the memory usage for de Brujin graphs.
Medvedev P, Pham S, Chaisson M, Tesler G, Pevzner P (2011) Paired de bruijn graphs: a novel approach for incorporating mate pair information into genome assemblers. J Comput Biol 18 (11):1625-1634. doi:10.1089/cmb.2011.0151
Bryant DW, Jr., Wong WK, Mockler TC (2009) QSRA: a quality-value guided de novo short read assembler. BMC bioinformatics 10:69. doi:10.1186/1471-2105-10-69
Dohm JC, Lottaz C, Borodina T, Himmelbauer H (2007) SHARCGS, a fast and highly accurate short-read assembly algorithm for de novo genomic sequencing. Genome Res 17 (11):1697-1706. doi:gr.6435207
Jeck WR, Reinhardt JA, Baltrus DA, Hickenbotham MT, Magrini V et al. (2007) Extending assembly of short DNA sequences to handle error. Bioinformatics 23 (21):2942-2944. doi:10.1093/bioinformatics/btm451
Warren RL, Sutton GG, Jones SJ, Holt RA (2007) Assembling millions of short DNA sequences using SSAKE. Bioinformatics 23 (4):500-501. doi: 10.1093/bioinformatics/btl629
Miller JR, Koren S, Sutton G (2010) Assembly algorithms for next-generation sequencing data. Genomics 95 (6):315-327. doi:10.1016/j.ygeno.2010.03.001
Schmidt B, Sinha R, Beresford-Smith B, Puglisi SJ (2009) A fast hybrid short read fragment assembly algorithm. Bioinformatics 25 (17):2279-2280. doi:10.1093/bioinformatics/btp374
El-Metwally S, Hamza T, Zakaria M, Helmy M (2013) Next-generation sequence assembly: four stages of data processing and computational challenges. PLoS Comput Biol 9 (12):e1003345. doi:10.1371/journal.pcbi.1003345
Gnerre S, Maccallum I, Przybylski D, Ribeiro FJ, Burton JN et al. (2011) High-quality draft assemblies of mammalian genomes from massively parallel sequence data. Proceedings of the National Academy of Sciences of the United States of America 108 (4):1513-1518. doi:10.1073/pnas.1017351108
Zerbino DR, McEwen GK, Margulies EH, Birney E (2009) Pebble and rock band: heuristic resolution of repeats and scaffolding in the velvet short-read de novo assembler. PLoS One 4 (12):e8407. doi:10.1371/journal.pone.0008407
Boetzer M, Henkel CV, Jansen HJ, Butler D, Pirovano W (2011) Scaffolding pre-assembled contigs using SSPACE. Bioinformatics 24 (4):578-579
Dayarian A, Michael TP, Sengupta AM (2010) SOPRA: Scaffolding algorithm for paired reads via statistical optimization. BMC bioinformatics 11:345. doi:10.1186/1471-2105-11-345
Donmez N, Brudno M (2013) SCARPA: scaffolding reads with practical algorithms. Bioinformatics 29 (4):428-434. doi:10.1093/bioinformatics/bts716
Gao S, Sung WK, Nagarajan N (2011) Opera: reconstructing optimal genomic scaffolds with high-throughput paired-end sequences. J Comput Biol 18 (11):1681-1691. doi:10.1089/cmb.2011.0170
Gritsenko AA, Nijkamp JF, Reinders MJ, de Ridder D (2012) GRASS: a generic algorithm for scaffolding next-generation sequencing assemblies. Bioinformatics 28 (11):1429-1437. doi:10.1093/bioinformatics/bts175
Koren S, Treangen TJ, Pop M (2011) Bambus 2: scaffolding metagenomes. Bioinformatics 27 (21):2964-2971. doi:10.1093/bioinformatics/btr520
Pop M, Kosack DS, Salzberg SL (2004) Hierarchical scaffolding with Bambus. Genome research 14 (1):149-159. doi:10.1101/gr.1536204
Salmela L, Makinen V, Valimaki N, Ylinen J, Ukkonen E (2011) Fast scaffolding with small independent mixed integer programs. Bioinformatics 27 (23):3259-3265. doi:10.1093/bioinformatics/btr562
Huson DH, Reinert K, Myers EW (2002) The greedy path-merging algorithm for contig scaffolding. Journal of the ACM 49 (5):603 - 615
Medvedev P, Brudno M (2008) Ab initio whole genome shotgun assembly with mated short reads. Paper presented at the Proceedings of the 12th annual international conference on Research in computational molecular biology, Singapore
Liu Y, Schroder J, Schmidt B (2013) Musket: a multistage k-mer spectrum-based error corrector for Illumina sequence data. Bioinformatics 29 (3):308-315. doi:10.1093/bioinformatics/bts690
Salmela L (2010) Correction of sequencing errors in a mixed set of reads. Bioinformatics 26 (10):1284-1290. doi:10.1093/bioinformatics/btq151
Koren S, Schatz MC, Walenz BP, Martin J, Howard JT et al. (2012) Hybrid error correction and de novo assembly of single-molecule sequencing reads. Nat Biotechnol 30 (7):693-700. doi:10.1038/nbt.2280
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2014 The Authors
About this chapter
Cite this chapter
El-Metwally, S., Ouda, O.M., Helmy, M. (2014). Approaches and Challenges of Next-Generation Sequence Assembly Stages. In: Next Generation Sequencing Technologies and Challenges in Sequence Assembly. SpringerBriefs in Systems Biology, vol 7. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-0715-1_9
Download citation
DOI: https://doi.org/10.1007/978-1-4939-0715-1_9
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4939-0714-4
Online ISBN: 978-1-4939-0715-1
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)