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Optical mapping and nanocoding approaches to whole-genome analysis

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Abstract

Recent application of microfluidic and nanofluidic approaches to genomics has enabled rapid analysis of whole human and other large genomes. Here, we present a review of optical mapping and nanocoding, two single-molecule whole-genome analysis systems, which are used for physical mapping of genomes. Optical mapping employs a microfluidic device, fabricated using soft lithography approaches, to achieve DNA presentation via DNA flow in microchannels. On the other hand, nanocoding leverages DNA confinement in nanoscale devices to achieve DNA presentation. In this review, we focus on the physical principles underlying DNA presentation in both of these systems and the application of these approaches towards better understanding of genomic structure and structural variation.

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  • Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA, Altshuler D, Durbin RM, Abecasis GR, Bentley DR, Chakravarti A, Clark AG, Collins FS, De La Vega FM, Donnelly P, Egholm M, Flicek P, Gabriel SB, Gibbs RA, Knoppers BM, Lander ES, Lehrach H, Mardis ER, McVean GA, Nickerson DA, Peltonen L, Schafer AJ, Sherry ST, Wang J, Wilson R, Gibbs RA, Deiros D, Metzker M, Muzny D, Reid J, Wheeler D, Wang J, Li J, Jian M, Li G, Li R, Liang H, Tian G, Wang B, Wang J, Wang W, Yang H, Zhang X, Zheng H, Lander ES, Altshuler DL, Ambrogio L, Bloom T, Cibulskis K, Fennell TJ, Gabriel SB, Jaffe DB, Shefler E, Sougnez CL, Bentley DR, Gormley N, Humphray S, Kingsbury Z, Kokko-Gonzales P, Stone J, McKernan KJ, Costa GL, Ichikawa JK, Lee CC, Sudbrak R, Lehrach H, Borodina TA, Dahl A, Davydov AN, Marquardt P, Mertes F, Nietfeld W, Rosenstiel P, Schreiber S, Soldatov AV, Timmermann B, Tolzmann M, Egholm M, Affourtit J, Ashworth D, Attiya S, Bachorski M, Buglione E, Burke A, Caprio A, Celone C, Clark S, Conners D, Desany B, Gu L, Guccione L, Kao K, Kebbler J, Knowlton J, Labrecque M, McDade L, Mealmaker C, Minderman M, Nawrocki A, Niazi F, Pareja K, Ramenani R, Riches D, Song W, Turcotte C, Wang S, Mardis ER, Wilson RK, Dooling D, Fulton L, Fulton R, Weinstock G, Durbin RM, Burton J, Carter DM, Churcher C, Coffey A, Cox A, Palotie A, Quail M, Skelly T, Stalker J, Swerdlow HP, Turner D, De Witte A, Giles S, Gibbs RA, Wheeler D, Bainbridge M, Challis D, Sabo A, Yu F, Yu J, Wang J, Fang X, Guo X, Li R, Li Y, Luo R, Tai S, Wu H, Zheng H, Zheng X, Zhou Y, Li G, Wang J, Yang H, Marth GT, Garrison EP, Huang W, Indap A, Kural D, Lee WP, Leong WF, Quinlan AR, Stewart C, Stromberg MP, Ward AN, Wu J, Lee C, Mills RE, Shi X, Daly MJ, DePristo MA, Altshuler DL, Ball AD, Banks E, Bloom T, Browning BL, Cibulskis K, Fennell TJ, Garimella KV, Grossman SR, Handsaker RE, Hanna M, Hartl C, Jaffe DB, Kernytsky AM, Korn JM, Li H, Maguire JR, McCarroll SA, McKenna A, Nemesh JC, Philippakis AA, Poplin RE, Price A, Rivas MA, Sabeti PC, Schaffner SF, Shefler E, Shlyakhter IA, Cooper DN, Ball EV, Mort M, Phillips AD, Stenson PD, Sebat J, Makarov V, Ye K, Yoon SC, Bustamante CD, Clark AG, Boyko A, Degenhardt J, Gravel S, Gutenkunst RN, Kaganovich M, Keinan A, Lacroute P, Ma X, Reynolds A, Clarke L, Flicek P, Cunningham F, Herrero J, Keenen S, Kulesha E, Leinonen R, McLaren WM, Radhakrishnan R, Smith RE, Zalunin V, Zheng-Bradley X, Korbel JO, Stutz AM, Humphray S, Bauer M, Cheetham RK, Cox T, Eberle M, James T, Kahn S, Murray L, Chakravarti A, Ye K, De La Vega FM, Fu Y, Hyland FC, Manning JM, McLaughlin SF, Peckham HE, Sakarya O, Sun YA, Tsung EF, Batzer MA, Konkel MK, Walker JA, Sudbrak R, Albrecht MW, Amstislavskiy VS, Herwig R, Parkhomchuk DV, Sherry ST, Agarwala R, Khouri HM, Morgulis AO, Paschall JE, Phan LD, Rotmistrovsky KE, Sanders RD, Shumway MF, Xiao C, McVean GA, Auton A, Iqbal Z, Lunter G, Marchini JL, Moutsianas L, Myers S, Tumian A, Desany B, Knight J, Winer R, Craig DW, Beckstrom-Sternberg SM, Christoforides A, Kurdoglu AA, Pearson JV, Sinari SA, Tembe WD, Haussler D, Hinrichs AS, Katzman SJ, Kern A, Kuhn RM, Przeworski M, Hernandez RD, Howie B, Kelley JL, Melton SC, Abecasis GR, Li Y, Anderson P, Blackwell T, Chen W, Cookson WO, Ding J, Kang HM, Lathrop M, Liang L, Moffatt MF, Scheet P, Sidore C, Snyder M, Zhan X, Zollner S, Awadalla P, Casals F, Idaghdour Y, Keebler J, Stone EA, Zilversmit M, Jorde L, Xing J, Eichler EE, Aksay G, Alkan C, Hajirasouliha I, Hormozdiari F, Kidd JM, Sahinalp SC, Sudmant PH, Mardis ER, Chen K, Chinwalla A, Ding L, Koboldt DC, McLellan MD, Dooling D, Weinstock G, Wallis JW, Wendl MC, Zhang Q, Durbin RM, Albers CA, Ayub Q, Balasubramaniam S, Barrett JC, Carter DM, Chen Y, Conrad DF, Danecek P, Dermitzakis ET, Hu M, Huang N, Hurles ME, Jin H, Jostins L, Keane TM, Le SQ, Lindsay S, Long Q, MacArthur DG, Montgomery SB, Parts L, Stalker J, Tyler-Smith C, Walter K, Zhang Y, Gerstein MB, Snyder M, Abyzov A, Balasubramanian S, Bjornson R, Du J, Grubert F, Habegger L, Haraksingh R, Jee J, Khurana E, Lam HY, Leng J, Mu XJ, Urban AE, Zhang Z, Li Y, Luo R, Marth GT, Garrison EP, Kural D, Quinlan AR, Stewart C, Stromberg MP, Ward AN, Wu J, Lee C, Mills RE, Shi X, McCarroll SA, Banks E, DePristo MA, Handsaker RE, Hartl C, Korn JM, Li H, Nemesh JC, Sebat J, Makarov V, Ye K, Yoon SC, Degenhardt J, Kaganovich M, Clarke L, Smith RE, Zheng-Bradley X, Korbel JO, Humphray S, Cheetham RK, Eberle M, Kahn S, Murray L, Ye K, De La Vega FM, Fu Y, Peckham HE, Sun YA, Batzer MA, Konkel MK, Walker JA, Xiao C, Iqbal Z, Desany B, Blackwell T, Snyder M, Xing J, Eichler EE, Aksay G, Alkan C, Hajirasouliha I, Hormozdiari F, Kidd JM, Chen K, Chinwalla A, Ding L, McLellan MD, Wallis JW, Hurles ME, Conrad DF, Walter K, Zhang Y, Gerstein MB, Snyder M, Abyzov A, Du J, Grubert F, Haraksingh R, Jee J, Khurana E, Lam HY, Leng J, Mu XJ, Urban AE, Zhang Z, Gibbs RA, Bainbridge M, Challis D, Coafra C, Dinh H, Kovar C, Lee S, Muzny D, Nazareth L, Reid J, Sabo A, Yu F, Yu J, Marth GT, Garrison EP, Indap A, Leong WF, Quinlan AR, Stewart C, Ward AN, Wu J, Cibulskis K, Fennell TJ, Gabriel SB, Garimella KV, Hartl C, Shefler E, Sougnez CL, Wilkinson J, Clark AG, Gravel S, Grubert F, Clarke L, Flicek P, Smith RE, Zheng-Bradley X, Sherry ST, Khouri HM, Paschall JE, Shumway MF, Xiao C, McVean GA, Katzman SJ, Abecasis GR, Mardis ER, Dooling D, Fulton L, Fulton R, Koboldt DC, Durbin RM, Balasubramaniam S, Coffey A, Keane TM, MacArthur DG, Palotie A, Scott C, Stalker J, Tyler-Smith C, Gerstein MB, Balasubramanian S, Chakravarti A, Knoppers BM, Abecasis GR, Bustamante CD, Gharani N, Gibbs RA, Jorde L, Kaye JS, Kent A, Li T, McGuire AL, McVean GA, Ossorio PN, Rotimi CN, Su Y, Toji LH, Tyler-Smith C, Brooks LD, Felsenfeld AL, McEwen JE, Abdallah A, Juenger CR, Clemm NC, Collins FS, Duncanson A, Green ED, Guyer MS, Peterson JL, Schafer AJ, Xue Y, Cartwright RA (2010) A map of human genome variation from population-scale sequencing. Nature 467:1061–1073

    Article  Google Scholar 

  • Anantharaman TS, Mishra B, Schwartz DC (1997) Genomics via optical mapping. II: ordered restriction maps. J Comput Biol 4(2):91–118

    Article  Google Scholar 

  • Anantharaman T, Mishra B, Schwartz D (1999) Genomics via optical mapping. III: contiging genomic DNA. In: Proc Int Conf Intell Syst Mol Biol, pp 18–27

  • Antonacci F, Kidd JM, Marques-Bonet T, Teague B, Ventura M, Girirajan S, Alkan C, Campbell CD, Vives L, Malig M, Rosenfeld JA, Ballif BC, Shaffer LG, Graves TA, Wilson RK, Schwartz DC, Eichler EE (2010) A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nat Genet 42:745–750

    Article  Google Scholar 

  • Baumann CG, Smith SB, Bloomfield VA, Bustamante C (1997) Ionic effects on the elasticity of single DNA molecules. Proc Natl Acad Sci USA 94:6185–6190

    Article  Google Scholar 

  • Branton D, Deamer DW, Marziali A, Bayley H, Benner SA, Butler T, Di Ventra M, Garaj S, Hibbs A, Huang X, Jovanovich SB, Krstic PS, Lindsay S, Ling XS, Mastrangelo CH, Meller A, Oliver JS, Pershin YV, Ramsey JM, Riehn R, Soni GV, Tabard-Cossa V, Wanunu M, Wiggin M, Schloss JA (2008) The potential and challenges of nanopore sequencing. Nat Biotechnol 26:1146–1153

    Article  Google Scholar 

  • Brochard F, de Gennes P-G (1977) Dynamics of confined polymer chains. J Chem Phys 67(1):52–56

    Article  Google Scholar 

  • Bustamante C, Smith SB, Liphardt J, Smith D (2000) Single-molecule studies of DNA mechanics. Curr Opin Struct Biol 10:279–285

    Article  Google Scholar 

  • Cai W, Aburatani H, Stanton VP, Housman DE, Wang YK, Schwartz DC (1995) Ordered restriction endonuclease maps of yeast artificial chromosomes created by optical mapping on surfaces. Proc Natl Acad Sci USA 92:5164–5168

    Article  Google Scholar 

  • Cantor CR, Schimmel PR (1980) Biophysical chemistry: part II: techniques for the study of biological structure and function. Macmillan, New York

    Google Scholar 

  • Church DM, Goodstadt L, Hillier LW, Zody MC, Goldstein S, She X, Bult CJ, Agarwala R, Cherry JL, DiCuccio M, Hlavina W, Kapustin Y, Meric P, Maglott D, Birtle Z, Marques AC, Graves T, Zhou S, Teague B, Potamousis K, Churas C, Place M, Herschleb J, Runnheim R, Forrest D, Amos-Landgraf J, Schwartz DC, Cheng Z, Lindblad-Toh K, Eichler EE, Ponting CP, Muzny DM, Dugan-Rocha S, Ding Y, Scherer SE, Buhay CJ, Cree A, Hernandez J, Holder M, Hume J, Jackson LR, Kovar C, Lee SL, Lewis LR, Metzker ML, Narareth LV, Sabo A, Sodergren E, Gibbs RA, Zody MC, FitzGerald M, Cook A, Jaffe DB, Garber M, Zimmer AR, Pirun M, Russell L, Sharpe T, Chaturvedi MK, Wilkinson J, LaButti K, Yang X, Bessette D, Allen NR, Nguyen C, Nguyen T, Dunbar C, Lubonja R, Matthews C, Liu X, Benamara M, Negash T, Lokyitsang T, Decktor K, Piqani B, Munson G, Tenzin P, Stone S, Macdonald P, Arachchi H, Abouelleil A, Lui A, Priest M, Gearin G, Brown A, Aftuck L, Shea T, Sykes S, Berlin A, Chu J, Dooley K, Hagopian D, Hall J, Hafez N, Smith CL, Olandt P, Miller K, Ventkataraman V, Rachupka A, Dorris L, Ayotte L, Mabbitt R, Erickson J, Horn A, An P, Naylor JW, Settipalli S, Lander ES, Lindblad-Toh K, Wilson RK, Graves TA, Fulton RS, Rock SM, Hillier LW, Chinwalla AT, Bernard K, Courtney LP, Fronick C, Fulton LL, O’Laughlin M, Kremitzki CL, Minx PJ, Nelson JO, Schatzkamer KL, Strong C, Wollam AM, Weinstock GM, Yang SP, Rogers J, Grafham D, Humphray S, Nicholson C, Bird C, Brown AJ, Burton J, Clee C, Hunt A, Jones MC, Lloyd C, Matthews L, Mclaren K, Mclaren S, McLay K, Palmer SA, Plumb R, Shownkeen R, Sims S, Quail MA, Whitehead SL, Willey DL (2009) Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol 7:e1000112

    Article  Google Scholar 

  • Dimalanta ET, Lim A, Runnheim R, Lamers C, Churas C, Forrest DK, de Pablo JJ, Graham MD, Coppersmith SN, Goldstein S, Schwartz DC (2004) A microfluidic system for large DNA molecule arrays. Anal Chem 76:5293–5301

    Article  Google Scholar 

  • Eid J, Fehr A, Gray J, Luong K, Lyle J, Otto G, Peluso P, Rank D, Baybayan P, Bettman B, Bibillo A, Bjornson K, Chaudhuri B, Christians F, Cicero R, Clark S, Dalal R, Dewinter A, Dixon J, Foquet M, Gaertner A, Hardenbol P, Heiner C, Hester K, Holden D, Kearns G, Kong X, Kuse R, Lacroix Y, Lin S, Lundquist P, Ma C, Marks P, Maxham M, Murphy D, Park I, Pham T, Phillips M, Roy J, Sebra R, Shen G, Sorenson J, Tomaney A, Travers K, Trulson M, Vieceli J, Wegener J, Wu D, Yang A, Zaccarin D, Zhao P, Zhong F, Korlach J, Turner S (2009) Real-time DNA sequencing from single polymerase molecules. Science 323:133–138

    Article  Google Scholar 

  • Gupta A, Place M, Goldstein S, Sarkar D, Zhou S, Potamousis K, Kim J, Flanagan C, Li Y, Newton MA, Callander NS, Hematti P, Bresnick EH, Ma J, Asimakopoulos F, Schwartz DC (2015) Single-molecule analysis reveals widespread structural variation in multiple myeloma. Proc Natl Acad Sci 112(25):7689–7694

    Article  Google Scholar 

  • Jing J, Reed J, Huang J, Hu X, Clarke V, Edington J, Housman D, Anantharaman TS, Huff EJ, Mishra B, Porter B, Shenker A, Wolfson E, Hiort C, Kantor R, Aston C, Schwartz DC (1998) Automated high resolution optical mapping using arrayed, fluid-fixed DNA molecules. Proc Natl Acad Sci USA 95:8046–8051

    Article  Google Scholar 

  • Jo K, Dhingra DM, Odijk T, de Pablo JJ, Graham MD, Runnheim R, Forrest D, Schwartz DC (2007) A single-molecule barcoding system using nanoslits for DNA analysis. Proc Natl Acad Sci USA 104:2673–2678

    Article  Google Scholar 

  • Jo K, Schramm TM, Schwartz DC (2009) A single-molecule barcoding system using nanoslits for DNA analysis: nanocoding. Methods Mol Biol 544:29–42

    Article  Google Scholar 

  • Jostins L (2012) Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 491:119–124

    Article  Google Scholar 

  • Klotz LC, Zimm BH (1972) Size of DNA determined by viscoelastic measurements: results on bacteriophages, Bacillus subtilis and Escherichia coli. J Mol Biol 72:779–800

    Article  Google Scholar 

  • Ladoux B, Doyle PS (2000) Stretching tethered DNA chains in shear flow. Europhys Lett 52(5):511–517

    Article  Google Scholar 

  • Lai Z, Jing J, Aston C, Clarke V, Apodaca J, Dimalanta ET, Carucci DJ, Gardner MJ, Mishra B, Anantharaman TS, Paxia S, Hoffman SL, Venter J Craig, Huff EJ, Schwartz DC (1999) A shotgun optical map of the entire Plasmodium falciparum genome. Nat Genet 23:309–313

    Article  Google Scholar 

  • 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, Stange-Thomann N, Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D, Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R, Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Hillier LW, McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin KH, Gish WR, Chissoe SL, Wendl MC, Delehaunty KD, Miner TL, Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ, Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C, Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB, Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A, Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F, Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, Smith DR, Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J, Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu J, Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW, Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M, Grimwood J, Cox DR, Olson MV, Kaul R, Raymond C, Shimizu N, Kawasaki K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F, Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR, de la Bastide M, Dedhia N, Blocker H, Hornischer K, Nordsiek G, Agarwala R, Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P, Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG, Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W, Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A, Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G, Schultz J, Slater G, Smit AF, Stupka E, Szustakowski J, Thierry-Mieg D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J, Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, de Jong P, Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ, Szustakowki J (2001) Initial sequencing and analysis of the human genome. Nature 409:860–921

    Article  Google Scholar 

  • Lin J, Qi R, Aston C, Jing J, Anantharaman TS, Mishra B, White O, Daly MJ, Minton KW, Venter JC, Schwartz DC (1999) Whole-genome shotgun optical mapping of Deinococcus radiodurans. Science 285:1558–1562

    Article  Google Scholar 

  • Ma LJ, van der Does HC, Borkovich KA, Coleman JJ, Daboussi MJ, Di Pietro A, Dufresne M, Freitag M, Grabherr M, Henrissat B, Houterman PM, Kang S, Shim WB, Woloshuk C, Xie X, Xu JR, Antoniw J, Baker SE, Bluhm BH, Breakspear A, Brown DW, Butchko RA, Chapman S, Coulson R, Coutinho PM, Danchin EG, Diener A, Gale LR, Gardiner DM, Goff S, Hammond-Kosack KE, Hilburn K, Hua-Van A, Jonkers W, Kazan K, Kodira CD, Koehrsen M, Kumar L, Lee YH, Li L, Manners JM, Miranda-Saavedra D, Mukherjee M, Park G, Park J, Park SY, Proctor RH, Regev A, Ruiz-Roldan MC, Sain D, Sakthikumar S, Sykes S, Schwartz DC, Turgeon BG, Wapinski I, Yoder O, Young S, Zeng Q, Zhou S, Galagan J, Cuomo CA, Kistler HC, Rep M (2010) Comparative genomics reveals mobile pathogenicity chromosomes in Fusarium. Nature 464:367–373

    Article  Google Scholar 

  • Margulies M, Egholm M, Altman WE, Attiya S, Bader JS, Bemben LA, Berka J, Braverman MS, Chen YJ, Chen Z, Dewell SB, Du L, Fierro JM, Gomes XV, Godwin BC, He W, Helgesen S, Ho CH, Ho CH, Irzyk GP, Jando SC, Alenquer ML, Jarvie TP, Jirage KB, Kim JB, Knight JR, Lanza JR, Leamon JH, Lefkowitz SM, Lei M, Li J, Lohman KL, Lu H, Makhijani VB, McDade KE, McKenna MP, Myers EW, Nickerson E, Nobile JR, Plant R, Puc BP, Ronan MT, Roth GT, Sarkis GJ, Simons JF, Simpson JW, Srinivasan M, Tartaro KR, Tomasz A, Vogt KA, Volkmer GA, Wang SH, Wang Y, Weiner MP, Yu P, Begley RF, Rothberg JM (2005) Genome sequencing in microfabricated high-density picolitre reactors. Nature 437:376–380

    Google Scholar 

  • Marko J, Siggia E (1995) Statistical mechanics of supercoiled DNA. Phys Rev E 52(3):2912

    Article  MathSciNet  Google Scholar 

  • Meyerson M, Gabriel S, Getz G (2010) Advances in understanding cancer genomes through second-generation sequencing. Nat Rev Genet 11:685–696

    Article  Google Scholar 

  • O’Connell RJ, Thon MR, Hacquard S, Amyotte SG, Kleemann J, Torres MF, Damm U, Buiate EA, Epstein L, Alkan N, Altmuller J, Alvarado-Balderrama L, Bauser CA, Becker C, Birren BW, Chen Z, Choi J, Crouch JA, Duvick JP, Farman MA, Gan P, Heiman D, Henrissat B, Howard RJ, Kabbage M, Koch C, Kracher B, Kubo Y, Law AD, Lebrun MH, Lee YH, Miyara I, Moore N, Neumann U, Nordstrom K, Panaccione DG, Panstruga R, Place M, Proctor RH, Prusky D, Rech G, Reinhardt R, Rollins JA, Rounsley S, Schardl CL, Schwartz DC, Shenoy N, Shirasu K, Sikhakolli UR, Stuber K, Sukno SA, Sweigard JA, Takano Y, Takahara H, Trail F, van der Does HC, Voll LM, Will I, Young S, Zeng Q, Zhang J, Zhou S, Dickman MB, Schulze-Lefert P, Ver E, van Themaat Loren, Ma LJ, Vaillancourt LJ (2012) Lifestyle transitions in plant pathogenic Colletotrichum fungi deciphered by genome and transcriptome analyses. Nat Genet 44:1060–1065

    Article  Google Scholar 

  • Odijk T (1977) Polyelectrolytes near the rod limit. J Polymer Sci Polymer Phys Ed 15(3):477–483

    Article  Google Scholar 

  • Odijk T (1983) The statistics and dynamics of confined or entangled stiff polymers. Macromolecules 16(8):1340–1344

    Article  Google Scholar 

  • Pinkel D, Albertson DG (2005) Array comparative genomic hybridization and its applications in cancer. Nat Genet 37(Suppl):S11–17

    Article  Google Scholar 

  • Pop M, Salzberg SL (2008) Bioinformatics challenges of new sequencing technology. Trends Genet 24:142–149

    Article  Google Scholar 

  • Ray M, Goldstein S, Zhou S, Potamousis K, Sarkar D, Newton MA, Esterberg E, Kendziorski C, Bogler O, Schwartz DC (2013) Discovery of structural alterations in solid tumor oligodendroglioma by single molecule analysis. BMC Genom 14:505

    Article  Google Scholar 

  • Rothberg JM, Hinz W, Rearick TM, Schultz J, Mileski W, Davey M, Leamon JH, Johnson K, Milgrew MJ, Edwards M, Hoon J, Simons JF, Marran D, Myers JW, Davidson JF, Branting A, Nobile JR, Puc BP, Light D, Clark TA, Huber M, Branciforte JT, Stoner IB, Cawley SE, Lyons M, Fu Y, Homer N, Sedova M, Miao X, Reed B, Sabina J, Feierstein E, Schorn M, Alanjary M, Dimalanta E, Dressman D, Kasinskas R, Sokolsky T, Fidanza JA, Namsaraev E, McKernan KJ, Williams A, Roth GT, Bustillo J (2011) An integrated semiconductor device enabling non-optical genome sequencing. Nature 475:348–352

    Article  Google Scholar 

  • Saxena R (2007) Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 316:1331–1336

    Article  Google Scholar 

  • Schwartz DC, Li X, Hernandez LI, Ramnarain SP, Huff EJ, Wang YK (1993) Ordered restriction maps of Saccharomyces cerevisiae chromosomes constructed by optical mapping. Science 262:110–114

    Article  Google Scholar 

  • Schwartz DC, Cantor CR (1984) Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis. Cell 37:67–75

    Article  Google Scholar 

  • Skolnick J, Fixman M (1977) Electrostatic persistence length of a wormlike polyelectrolyte. Macromolecules 10(5):944–948

    Article  Google Scholar 

  • Teague B, Waterman MS, Goldstein S, Potamousis K, Zhou S, Reslewic S, Sarkar D, Valouev A, Churas C, Kidd JM, Kohn S, Runnheim R, Lamers C, Forrest D, Newton MA, Eichler EE, Kent-First M, Surti U, Livny M, Schwartz DC (2010) High-resolution human genome structure by single-molecule analysis. Proc Natl Acad Sci USA 107:10848–10853

    Article  Google Scholar 

  • Treangen TJ, Salzberg SL (2012) Repetitive DNA and next-generation sequencing: computational challenges and solutions. Nat Rev Genet 13:36–46

    Google Scholar 

  • Turcatti G, Romieu A, Fedurco M, Tairi AP (2008) A new class of cleavable fluorescent nucleotides: synthesis and optimization as reversible terminators for DNA sequencing by synthesis. Nucleic Acids Res 36:e25

    Article  Google Scholar 

  • Valouev A, Schwartz DC, Zhou S, Waterman MS (2006a) An algorithm for assembly of ordered restriction maps from single DNA molecules. Proc Natl Acad Sci USA 103:15770–15775

    Article  Google Scholar 

  • Valouev A, Zhang Y, Schwartz DC, Waterman MS (2006b) Refinement of optical map assemblies. Bioinformatics 22:1217–1224

    Article  Google Scholar 

  • Valouev A, Li L, Liu YC, Schwartz DC, Yang Y, Zhang Y, Waterman MS (2006c) Alignment of optical maps. J Comput Biol 13:442–462

    Article  MATH  MathSciNet  Google Scholar 

  • Vologodskii A, Cozzarelli N (1995) Modeling of long-range electrostatic interactions in DNA. Biopolymers 35(3):289–296

    Article  Google Scholar 

  • Wei J, Goldberg MB, Burland V, Venkatesan MM, Deng W, Fournier G, Mayhew GF, Plunkett G, Rose DJ, Darling A, Mau B, Perna NT, Payne SM, Runyen-Janecky LJ, Zhou S, Schwartz DC, Blattner FR (2003) Complete genome sequence and comparative genomics of Shigella flexneri serotype 2a strain 2457T. Infect Immun 71:2775–2786

    Article  Google Scholar 

  • Wei F, Zhang J, Zhou S, He R, Schaeffer M, Collura K, Kudrna D, Faga BP, Wissotski M, Golser W, Rock SM, Graves TA, Fulton RS, Coe E, Schnable PS, Schwartz DC, Ware D, Clifton SW, Wilson RK, Wing RA (2009) The physical and genetic framework of the maize B73 genome. PLoS Genet 5:e1000715

    Article  Google Scholar 

  • Wu CW, Schramm TM, Zhou S, Schwartz DC, Talaat AM (2009) Optical mapping of the Mycobacterium avium subspecies paratuberculosis genome. BMC Genom 10:25

    Article  Google Scholar 

  • Zhou S, Deng W, Anantharaman TS, Lim A, Dimalanta ET, Wang J, Wu T, Chunhong T, Creighton R, Kile A, Kvikstad E, Bechner M, Yen G, Garic-Stankovic A, Severin J, Forrest D, Runnheim R, Churas C, Lamers C, Perna NT, Burland V, Blattner FR, Mishra B, Schwartz DC (2002) A whole-genome shotgun optical map of Yersinia pestis strain KIM. Appl Environ Microbiol 68:6321–6331

    Article  Google Scholar 

  • Zhou S, Kile A, Bechner M, Place M, Kvikstad E, Deng W, Wei J, Severin J, Runnheim R, Churas C, Forrest D, Dimalanta ET, Lamers C, Burland V, Blattner FR, Schwartz DC (2004) Single-molecule approach to bacterial genomic comparisons via optical mapping. J Bacteriol 186:7773–7782

    Article  Google Scholar 

  • Zhou S, Bechner MC, Place M, Churas CP, Pape L, Leong SA, Runnheim R, Forrest DK, Goldstein S, Livny M, Schwartz DC (2007) Validation of rice genome sequence by optical mapping. BMC Genom 8:278

    Article  Google Scholar 

  • Zhou S, Wei F, Nguyen J, Bechner M, Potamousis K, Goldstein S, Pape L, Mehan MR, Churas C, Pasternak S, Forrest DK, Wise R, Ware D, Wing RA, Waterman MS, Livny M, Schwartz DC (2009) A single molecule scaffold for the maize genome. PLoS Genet 5:e1000711

    Article  Google Scholar 

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Acknowledgments

We thank all the members of the Laboratory for Molecular and Computational Genomics (LMCG) for helpful discussions and research efforts directed towards the development of these systems. We also thank National Human Genome Research Institute (NHGRI R01HG000225) and National Science Foundation (NSF) for supporting our research efforts over the years.

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Correspondence to Prabu Ravindran.

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Gupta, A., Kounovsky-Shafer, K.L., Ravindran, P. et al. Optical mapping and nanocoding approaches to whole-genome analysis. Microfluid Nanofluid 20, 44 (2016). https://doi.org/10.1007/s10404-015-1685-y

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  • DOI: https://doi.org/10.1007/s10404-015-1685-y

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