Literature DB >> 20508146

Assembly of large genomes using second-generation sequencing.

Michael C Schatz1, Arthur L Delcher, Steven L Salzberg.   

Abstract

Second-generation sequencing technology can now be used to sequence an entire human genome in a matter of days and at low cost. Sequence read lengths, initially very short, have rapidly increased since the technology first appeared, and we now are seeing a growing number of efforts to sequence large genomes de novo from these short reads. In this Perspective, we describe the issues associated with short-read assembly, the different types of data produced by second-gen sequencers, and the latest assembly algorithms designed for these data. We also review the genomes that have been assembled recently from short reads and make recommendations for sequencing strategies that will yield a high-quality assembly.

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Year:  2010        PMID: 20508146      PMCID: PMC2928494          DOI: 10.1101/gr.101360.109

Source DB:  PubMed          Journal:  Genome Res        ISSN: 1088-9051            Impact factor:   9.043


  36 in total

1.  Initial sequencing and analysis of the human genome.

Authors:  E S Lander; L M Linton; B Birren; C Nusbaum; M C Zody; J Baldwin; K Devon; K Dewar; M Doyle; W FitzHugh; R Funke; D Gage; K Harris; A Heaford; J Howland; L Kann; J Lehoczky; R LeVine; P McEwan; K McKernan; J Meldrim; J P Mesirov; C Miranda; W Morris; J Naylor; C Raymond; M Rosetti; R Santos; A Sheridan; C Sougnez; Y Stange-Thomann; N Stojanovic; A Subramanian; D Wyman; J Rogers; J Sulston; R Ainscough; S Beck; D Bentley; J Burton; C Clee; N Carter; A Coulson; R Deadman; P Deloukas; A Dunham; I Dunham; R Durbin; L French; D Grafham; S Gregory; T Hubbard; S Humphray; A Hunt; M Jones; C Lloyd; A McMurray; L Matthews; S Mercer; S Milne; J C Mullikin; A Mungall; R Plumb; M Ross; R Shownkeen; S Sims; R H Waterston; R K Wilson; L W Hillier; J D McPherson; M A Marra; E R Mardis; L A Fulton; A T Chinwalla; K H Pepin; W R Gish; S L Chissoe; M C Wendl; K D Delehaunty; T L Miner; A Delehaunty; J B Kramer; L L Cook; R S Fulton; D L Johnson; P J Minx; S W Clifton; T Hawkins; E Branscomb; P Predki; P Richardson; S Wenning; T Slezak; N Doggett; J F Cheng; A Olsen; S Lucas; C Elkin; E Uberbacher; M Frazier; R A Gibbs; D M Muzny; S E Scherer; J B Bouck; E J Sodergren; K C Worley; C M Rives; J H Gorrell; M L Metzker; S L Naylor; R S Kucherlapati; D L Nelson; G M Weinstock; Y Sakaki; A Fujiyama; M Hattori; T Yada; A Toyoda; T Itoh; C Kawagoe; H Watanabe; Y Totoki; T Taylor; J Weissenbach; R Heilig; W Saurin; F Artiguenave; P Brottier; T Bruls; E Pelletier; C Robert; P Wincker; D R Smith; L Doucette-Stamm; M Rubenfield; K Weinstock; H M Lee; J Dubois; A Rosenthal; M Platzer; G Nyakatura; S Taudien; A Rump; H Yang; J Yu; J Wang; G Huang; J Gu; L Hood; L Rowen; A Madan; S Qin; R W Davis; N A Federspiel; A P Abola; M J Proctor; R M Myers; J Schmutz; M Dickson; J Grimwood; D R Cox; M V Olson; R Kaul; C Raymond; N Shimizu; K Kawasaki; S Minoshima; G A Evans; M Athanasiou; R Schultz; B A Roe; F Chen; H Pan; J Ramser; H Lehrach; R Reinhardt; W R McCombie; M de la Bastide; N Dedhia; H Blöcker; K Hornischer; G Nordsiek; R Agarwala; L Aravind; J A Bailey; A Bateman; S Batzoglou; E Birney; P Bork; D G Brown; C B Burge; L Cerutti; H C Chen; D Church; M Clamp; R R Copley; T Doerks; S R Eddy; E E Eichler; T S Furey; J Galagan; J G Gilbert; C Harmon; Y Hayashizaki; D Haussler; H Hermjakob; K Hokamp; W Jang; L S Johnson; T A Jones; S Kasif; A Kaspryzk; S Kennedy; W J Kent; P Kitts; E V Koonin; I Korf; D Kulp; D Lancet; T M Lowe; A McLysaght; T Mikkelsen; J V Moran; N Mulder; V J Pollara; C P Ponting; G Schuler; J Schultz; G Slater; A F Smit; E Stupka; J Szustakowki; D Thierry-Mieg; J Thierry-Mieg; L Wagner; J Wallis; R Wheeler; A Williams; Y I Wolf; K H Wolfe; S P Yang; R F Yeh; F Collins; M S Guyer; J Peterson; A Felsenfeld; K A Wetterstrand; A Patrinos; M J Morgan; P de Jong; J J Catanese; K Osoegawa; H Shizuya; S Choi; Y J Chen; J Szustakowki
Journal:  Nature       Date:  2001-02-15       Impact factor: 49.962

2.  An Eulerian path approach to DNA fragment assembly.

Authors:  P A Pevzner; H Tang; M S Waterman
Journal:  Proc Natl Acad Sci U S A       Date:  2001-08-14       Impact factor: 11.205

3.  RePS: a sequence assembler that masks exact repeats identified from the shotgun data.

Authors:  Jun Wang; Gane Ka-Shu Wong; Peixiang Ni; Yujun Han; Xiangang Huang; Jianguo Zhang; Chen Ye; Yong Zhang; Jianfei Hu; Kunlin Zhang; Xin Xu; Lijuan Cong; Hong Lu; Xide Ren; Xiaoyu Ren; Jun He; Lin Tao; Douglas A Passey; Jian Wang; Huanming Yang; Jun Yu; Songgang Li
Journal:  Genome Res       Date:  2002-05       Impact factor: 9.043

4.  Initial sequencing and comparative analysis of the mouse genome.

Authors:  Robert H Waterston; Kerstin Lindblad-Toh; Ewan Birney; Jane Rogers; Josep F Abril; Pankaj Agarwal; Richa Agarwala; Rachel Ainscough; Marina Alexandersson; Peter An; Stylianos E Antonarakis; John Attwood; Robert Baertsch; Jonathon Bailey; Karen Barlow; Stephan Beck; Eric Berry; Bruce Birren; Toby Bloom; Peer Bork; Marc Botcherby; Nicolas Bray; Michael R Brent; Daniel G Brown; Stephen D Brown; Carol Bult; John Burton; Jonathan Butler; Robert D Campbell; Piero Carninci; Simon Cawley; Francesca Chiaromonte; Asif T Chinwalla; Deanna M Church; Michele Clamp; Christopher Clee; Francis S Collins; Lisa L Cook; Richard R Copley; Alan Coulson; Olivier Couronne; James Cuff; Val Curwen; Tim Cutts; Mark Daly; Robert David; Joy Davies; Kimberly D Delehaunty; Justin Deri; Emmanouil T Dermitzakis; Colin Dewey; Nicholas J Dickens; Mark Diekhans; Sheila Dodge; Inna Dubchak; Diane M Dunn; Sean R Eddy; Laura Elnitski; Richard D Emes; Pallavi Eswara; Eduardo Eyras; Adam Felsenfeld; Ginger A Fewell; Paul Flicek; Karen Foley; Wayne N Frankel; Lucinda A Fulton; Robert S Fulton; Terrence S Furey; Diane Gage; Richard A Gibbs; Gustavo Glusman; Sante Gnerre; Nick Goldman; Leo Goodstadt; Darren Grafham; Tina A Graves; Eric D Green; Simon Gregory; Roderic Guigó; Mark Guyer; Ross C Hardison; David Haussler; Yoshihide Hayashizaki; LaDeana W Hillier; Angela Hinrichs; Wratko Hlavina; Timothy Holzer; Fan Hsu; Axin Hua; Tim Hubbard; Adrienne Hunt; Ian Jackson; David B Jaffe; L Steven Johnson; Matthew Jones; Thomas A Jones; Ann Joy; Michael Kamal; Elinor K Karlsson; Donna Karolchik; Arkadiusz Kasprzyk; Jun Kawai; Evan Keibler; Cristyn Kells; W James Kent; Andrew Kirby; Diana L Kolbe; Ian Korf; Raju S Kucherlapati; Edward J Kulbokas; David Kulp; Tom Landers; J P Leger; Steven Leonard; Ivica Letunic; Rosie Levine; Jia Li; Ming Li; Christine Lloyd; Susan Lucas; Bin Ma; Donna R Maglott; Elaine R Mardis; Lucy Matthews; Evan Mauceli; John H Mayer; Megan McCarthy; W Richard McCombie; Stuart McLaren; Kirsten McLay; John D McPherson; Jim Meldrim; Beverley Meredith; Jill P Mesirov; Webb Miller; Tracie L Miner; Emmanuel Mongin; Kate T Montgomery; Michael Morgan; Richard Mott; James C Mullikin; Donna M Muzny; William E Nash; Joanne O Nelson; Michael N Nhan; Robert Nicol; Zemin Ning; Chad Nusbaum; Michael J O'Connor; Yasushi Okazaki; Karen Oliver; Emma Overton-Larty; Lior Pachter; Genís Parra; Kymberlie H Pepin; Jane Peterson; Pavel Pevzner; Robert Plumb; Craig S Pohl; Alex Poliakov; Tracy C Ponce; Chris P Ponting; Simon Potter; Michael Quail; Alexandre Reymond; Bruce A Roe; Krishna M Roskin; Edward M Rubin; Alistair G Rust; Ralph Santos; Victor Sapojnikov; Brian Schultz; Jörg Schultz; Matthias S Schwartz; Scott Schwartz; Carol Scott; Steven Seaman; Steve Searle; Ted Sharpe; Andrew Sheridan; Ratna Shownkeen; Sarah Sims; Jonathan B Singer; Guy Slater; Arian Smit; Douglas R Smith; Brian Spencer; Arne Stabenau; Nicole Stange-Thomann; Charles Sugnet; Mikita Suyama; Glenn Tesler; Johanna Thompson; David Torrents; Evanne Trevaskis; John Tromp; Catherine Ucla; Abel Ureta-Vidal; Jade P Vinson; Andrew C Von Niederhausern; Claire M Wade; Melanie Wall; Ryan J Weber; Robert B Weiss; Michael C Wendl; Anthony P West; Kris Wetterstrand; Raymond Wheeler; Simon Whelan; Jamey Wierzbowski; David Willey; Sophie Williams; Richard K Wilson; Eitan Winter; Kim C Worley; Dudley Wyman; Shan Yang; Shiaw-Pyng Yang; Evgeny M Zdobnov; Michael C Zody; Eric S Lander
Journal:  Nature       Date:  2002-12-05       Impact factor: 49.962

5.  PCAP: a whole-genome assembly program.

Authors:  Xiaoqiu Huang; Jianmin Wang; Srinivas Aluru; Shiaw-Pyng Yang; LaDeana Hillier
Journal:  Genome Res       Date:  2003-09       Impact factor: 9.043

6.  Comparative genome assembly.

Authors:  Mihai Pop; Adam Phillippy; Arthur L Delcher; Steven L Salzberg
Journal:  Brief Bioinform       Date:  2004-09       Impact factor: 11.622

7.  A whole-genome assembly of Drosophila.

Authors:  E W Myers; G G Sutton; A L Delcher; I M Dew; D P Fasulo; M J Flanigan; S A Kravitz; C M Mobarry; K H Reinert; K A Remington; E L Anson; R A Bolanos; H H Chou; C M Jordan; A L Halpern; S Lonardi; E M Beasley; R C Brandon; L Chen; P J Dunn; Z Lai; Y Liang; D R Nusskern; M Zhan; Q Zhang; X Zheng; G M Rubin; M D Adams; J C Venter
Journal:  Science       Date:  2000-03-24       Impact factor: 47.728

8.  ARACHNE: a whole-genome shotgun assembler.

Authors:  Serafim Batzoglou; David B Jaffe; Ken Stanley; Jonathan Butler; Sante Gnerre; Evan Mauceli; Bonnie Berger; Jill P Mesirov; Eric S Lander
Journal:  Genome Res       Date:  2002-01       Impact factor: 9.043

9.  The acrosomal protein Dickkopf-like 1 (DKKL1) facilitates sperm penetration of the zona pellucida.

Authors:  Matthew J Kohn; Jorge Sztein; Rieko Yagi; Melvin L DePamphilis; Kotaro J Kaneko
Journal:  Fertil Steril       Date:  2009-07-10       Impact factor: 7.329

10.  Whole-genome sequence assembly for mammalian genomes: Arachne 2.

Authors:  David B Jaffe; Jonathan Butler; Sante Gnerre; Evan Mauceli; Kerstin Lindblad-Toh; Jill P Mesirov; Michael C Zody; Eric S Lander
Journal:  Genome Res       Date:  2003-01       Impact factor: 9.043

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  176 in total

1.  Hawkeye and AMOS: visualizing and assessing the quality of genome assemblies.

Authors:  Michael C Schatz; Adam M Phillippy; Daniel D Sommer; Arthur L Delcher; Daniela Puiu; Giuseppe Narzisi; Steven L Salzberg; Mihai Pop
Journal:  Brief Bioinform       Date:  2011-12-23       Impact factor: 11.622

2.  GAGE: A critical evaluation of genome assemblies and assembly algorithms.

Authors:  Steven L Salzberg; Adam M Phillippy; Aleksey Zimin; Daniela Puiu; Tanja Magoc; Sergey Koren; Todd J Treangen; Michael C Schatz; Arthur L Delcher; Michael Roberts; Guillaume Marçais; Mihai Pop; James A Yorke
Journal:  Genome Res       Date:  2012-01-06       Impact factor: 9.043

3.  Fulcrum: condensing redundant reads from high-throughput sequencing studies.

Authors:  Matthew S Burriesci; Erik M Lehnert; John R Pringle
Journal:  Bioinformatics       Date:  2012-03-13       Impact factor: 6.937

4.  Paired de bruijn graphs: a novel approach for incorporating mate pair information into genome assemblers.

Authors:  Paul Medvedev; Son Pham; Mark Chaisson; Glenn Tesler; Pavel Pevzner
Journal:  J Comput Biol       Date:  2011-10-14       Impact factor: 1.479

Review 5.  Exploring giant plant genomes with next-generation sequencing technology.

Authors:  Laura J Kelly; Ilia J Leitch
Journal:  Chromosome Res       Date:  2011-10       Impact factor: 5.239

6.  A fast, lock-free approach for efficient parallel counting of occurrences of k-mers.

Authors:  Guillaume Marçais; Carl Kingsford
Journal:  Bioinformatics       Date:  2011-01-07       Impact factor: 6.937

7.  Single-molecule sequencing and chromatin conformation capture enable de novo reference assembly of the domestic goat genome.

Authors:  Derek M Bickhart; Benjamin D Rosen; Sergey Koren; Brian L Sayre; Alex R Hastie; Saki Chan; Joyce Lee; Ernest T Lam; Ivan Liachko; Shawn T Sullivan; Joshua N Burton; Heather J Huson; John C Nystrom; Christy M Kelley; Jana L Hutchison; Yang Zhou; Jiajie Sun; Alessandra Crisà; F Abel Ponce de León; John C Schwartz; John A Hammond; Geoffrey C Waldbieser; Steven G Schroeder; George E Liu; Maitreya J Dunham; Jay Shendure; Tad S Sonstegard; Adam M Phillippy; Curtis P Van Tassell; Timothy P L Smith
Journal:  Nat Genet       Date:  2017-03-06       Impact factor: 38.330

8.  Reconstructing cancer genomes from paired-end sequencing data.

Authors:  Layla Oesper; Anna Ritz; Sarah J Aerni; Ryan Drebin; Benjamin J Raphael
Journal:  BMC Bioinformatics       Date:  2012-04-19       Impact factor: 3.169

9.  Assembling large genomes with single-molecule sequencing and locality-sensitive hashing.

Authors:  Konstantin Berlin; Sergey Koren; Chen-Shan Chin; James P Drake; Jane M Landolin; Adam M Phillippy
Journal:  Nat Biotechnol       Date:  2015-05-25       Impact factor: 54.908

10.  The Oxytricha trifallax macronuclear genome: a complex eukaryotic genome with 16,000 tiny chromosomes.

Authors:  Estienne C Swart; John R Bracht; Vincent Magrini; Patrick Minx; Xiao Chen; Yi Zhou; Jaspreet S Khurana; Aaron D Goldman; Mariusz Nowacki; Klaas Schotanus; Seolkyoung Jung; Robert S Fulton; Amy Ly; Sean McGrath; Kevin Haub; Jessica L Wiggins; Donna Storton; John C Matese; Lance Parsons; Wei-Jen Chang; Michael S Bowen; Nicholas A Stover; Thomas A Jones; Sean R Eddy; Glenn A Herrick; Thomas G Doak; Richard K Wilson; Elaine R Mardis; Laura F Landweber
Journal:  PLoS Biol       Date:  2013-01-29       Impact factor: 8.029

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