Biomics

Suggestions about the future tendencies of the genome and transcriptome sequencing and places of their realization have being made. The potential impact methods sequencing of nucleic acids (genomes and transcriptomes) belonging to the 4th and 5th generations for the detection of polymorphic states of the genomes of organisms of different levels of genetic complexity, including humans is described. The characteristic of different types of polymorphism of human DNA and evolution of their research are shown. Some attention was made to sizes of genomes and the so-called paradox C value. The forecast has been made about the number of fully sequenced genomes and transcriptomes by 2030, with breakdown by years. One approach for genotyping strains of bacteria with the assignment of unique genetic barcodes to microorganisms based on the method of RFEL (Restriction Fragment End Labelling) is described. The method of assigning various organisms DNA barcode-based polymorphism of cytochrome C oxidase is viewed. Cited literature covers nearly one hundred years.

DNA, RNA, protein, genome, sequencing, PCR, gel electrophoresis, RFEL, DNA-chips, oligonucleotide, genomics, transcriptomics, methylomics, GWAS, CNV, VNTR, STR, SNP

1. Александрушкина Н.И., Егорова Л.A. Нуклеотидный состав ДНК из термофильных бактерий рода Thermus // Микробиология. 1978. Т.47. С.250-252.

1. Баймиев Ал.Х., Чемерис А.В., Вахитов В.А. Анализ информативности некоторых современных методов идентификации полиморфизма ДНК микроорганизмов на примере симбиотических клубеньковых бактерий Rhizobium galegae // Генетика. 1999. Т.35. С.1613-1621.

3. Вахитов В.А., Чемерис А.В., Сабиржанов Б.Е., Ахунов Э.Д., Куликов А.М., Никоноров Ю.М., Гималов Ф.Р., Бикбулатова С.М., Баймиев Ал.Х. Исследование филогении Triticum L. и Aegilops L. на основе сравнения нуклеотидных последовательностей промоторных областей рДНК // Генетика. 2003. Т.39. С.5-17.
4. Голимбет В.Е., Корень Е.В. Вариации числа копий в геноме – новая страница в генетических исследованиях в области психиатрии: международный проект PsychCNVs // Журнал неврологии и психиатрии. 2010. Т. 1. С. 107-109.

1. Патрушев Л.И., Минкевич И.Г. Проблема размера геномов эукариот // Успехи биологической химии. 2007. Т.47. С. 293–370.

6. Усманова Н.М. Вариации числа копий отдельных сегментов – новая форма изменчивости генома // Цитология. 2009. Т. 51. С. 549-550.
7. Шереметьев С.Н., Гамалей Ю.В., Слезнев Н.Н. Направления эволюции генома покрытосеменных // Цитология. 2011. Т. 53. С. 295-311.

1. Шнеер В.С. ДНК – штрихкодирование видов животных и растений – способ их молекулярной идентификации и изучения биоразнообразия // Журнал Общей Биологии. 2009. Т. 70. № 4. С. 296-315.
2. 1000 Genomes Project Consortium, Abecasis G.R., Auton A., Brooks L.D., DePristo M.A., Durbin R.M., Handsaker R.E., Kang H.M., Marth G.T., McVean G.A. An integrated map of genetic variation from 1,092 human genomes // Nature. 2012. V. 491. P. 56-65.
3. Achenbach-Richter L., Gupta R., Stetter K.O., Woese C.R. Were the original eubacteria thermophiles? // Syst. Appl. Microbiol. 1987. V. 9. P. 34-39.
4. Adamski J. Genome-wide association studies with metabolomics // Genome Med. 2012. V. 4. P. 34.
5. Adamski J., Suhre K. Metabolomics platforms for genome wide association studies--linking the genome to the metabolome // Curr Opin Biotechnol. 2013. V. 24. P. 39-47.
6. Aik W., Demetriades M., Hamdan M.K., Bagg E.A., Yeoh K.K., Lejeune C., Zhang Z., McDonough M.A., Schofield C.J. Structural basis for inhibition of the fat mass and obesity associated protein (FTO) // J. Med. Chem. 2013. V. 56. P. 3680-3688.
7. Almal S.H., Padh H. Implications of gene copy-number variation in health and diseases // J. Hum. Genet. 2012. V. 57. P. 6-13.
8. Alvarez C.E., Akey J.M. Copy number variation in the domestic dog // Mamm. Genome. 2012. V.23. P.144-163.
9. Arahal D.R., Vreeland R.H., Litchfield C.D., Mormile M.R., Tindall B.J., Oren A, Bejar V., Quesada E., Ventosa A. Recommended minimal standards for describing new taxa of the family Halomonadaceae // Int J Syst Evol Microbiol. 2007. V. 57. P. 2436-2446.
10. Aten E., White S.J., Kalf M.E. et al. Methods to detect CNVs in the human genome // Cytogenet. Genome Res. 2008. V. 123. P. 313-321.
11. Baaske P., Weinert F.M., Duhr S., Lemke K.H., Russell M.J., Braun D. Extreme accumulation of nucleotides in simulated hydrothermal pore systems // Proc Natl Acad Sci U S A. 2007. V. 104. P. 9346-9351.
12. Bada J.L., Bigham C., Miller S.L. Impact melting of frozen oceans on the early Earth: implications for the origin of life // Proc. Natl. Acad. Sci. USA. 1994. V. 91. P. 1248-1250.
13. Baranzini S.E., Mudge J., van Velkinburgh J.C., Khankhanian P., Khrebtukova I., Miller N.A., Zhang L., Farmer A.D., Bell C.J., Kim R.W., May G.D., Woodward J.E., Caillier S.J., McElroy J.P., Gomez R., Pando M.J., Clendenen L.E., Ganusova E.E., Schilkey F.D., Ramaraj T., Khan O.A., Huntley J.J., Luo S., Kwok P.Y., Wu T.D., Schroth G.P., Oksenberg J.R., Hauser S.L., Ben-Avraham D., Muzumdar R.H., Atzmon G. Epigenetic genome-wide association methylation in aging and longevity // Epigenomics. 2012. V. 4. P. 503-509.
14. Baymiev Al.K., Chemeris A.V., Chemeris D.A.; Korpela T.K., Usanov N.G., Vakhitov V.A. Digital identification of genetic materials and methods for acquiring data for it // US Patent Application Publication 2007/0092873 A1. April 26, 2007.
15. Bell D.C., Thomas W.K., Murtagh K.M., Dionne C.A., Graham A.C., Anderson J.E., Glover W.R. DNA base identification by electron microscopy // Microsc. Microanal. 2012. V.18. P.1049-1053.
16. Bennett M.D., Leitch I.J. Nuclear DNA amounts in angiosperms: targets, trends and tomorrow // Ann Bot. 2011. 107. P. 467-590.
17. Bennett M.D., Leitch I.J., Price H.J., Johnston J.S. Comparisons with Caenorhabditis (approximately 100 Mb) and Drosophila (approximately 175 Mb) using flow cytometry show genome size in Arabidopsis to be approximately 157 Mb and thus approximately 25% larger than the Arabidopsis genome initiative estimate of approximately 125 Mb // Ann. Bot. 2003. V.91. P.547-557.
18. Berulava T., Ziehe M., Klein-Hitpass L., Mladenov E., Thomale J., Rüther U., Horsthemke B. FTO levels affect RNA modification and the transcriptome // Eur. J. Hum. Genet. 2013. 21. P. 317-323.
19. Biba E. Genome at home: biohackers build their own labs // Wired. 2011. 19.09.
20. Bickhart D.M., Hou Y., Schroeder S.G., Alkan C., Cardone M.F., Matukumalli L.K., Song J., Schnabel R.D., Ventura M., Taylor J.F., Garcia J.F., Van Tassell C.P., Sonstegard T.S., Eichler E.E., Liu G. E. Copy number variation of individual cattle genomes using next-generation sequencing // Genome Res. 2012. V. 22. P. 778-790.
21. Biderre C., Pages M., Méténier G., Canning E.U., Vivarès C.P. Evidence for the smallest nuclear genome (2.9 Mb) in the microsporidium Encephalitozoon cuniculi // Mol. Biochem. Parasitol. 1995. V. 74. P. 229-231.
22. Botstein D., White R.L., Skolnick M., Davis R.W. Construction of a genetic linkage map in man using restriction fragment length polymorphisms // Am. J. Hum. Genet. 1980. V.32. P.14-31.
23. Brock T.D., Freeze H. Thermus aquaticus gen. n. and sp. n., a nonsporulating extreme thermophile // J Bacteriol. 1969. V. 98. P. 289-297.
24. Buffart T.E., Israeli D., Tijssen M., Vosse S.J., Mrsić A., Meijer G.A., Ylstra B. Across array comparative genomic hybridization: a strategy to reduce reference channel hybridizations // Genes Chromosomes Cancer. 2008. V.47. P.994-1004.
25. Caporaso N., Gu F., Chatterjee N., Sheng-Chih J., Yu K., Yeager M., Chen C., Jacobs K., Wheeler W., Landi M.T., Ziegler R.G., Hunter D.J., Chanock S., Hankinson S., Kraft P., Bergen A.W. Genome-wide and candidate gene association study of cigarette smoking behaviors // PLoS One. 2009. V. 4. e4653.
26. Carter N.P. Methods and strategies for analyzing copy number variation using DNA microarrays // Nat. Genet. 2007. V. 39. P. 16-21.
27. Cavalier-Smith T. Economy, speed and size matter: evolutionary forces driving nuclear genome miniaturization and expansion // Ann. Bot. 2005. V. 95. P. 147-175.
28. Ceulemans S., van der Ven K., Del-Favero J. Targeted screening and validation of copy number variations // Methods Mol. Biol. 2012. V. 838. P. 311-328.
29. China Plant BOL Group, Li D.Z., Gao L.M., Li H.T., Wang H., Ge X.J., Liu J.Q., Chen Z.D., Zhou S.L., Chen S.L., Yang J.B., Fu C.X., Zeng C.X., Yan H.F., Zhu Y.J., Sun Y.S., Chen S.Y., Zhao L., Wang K., Yang T., Duan G.W. Comparative analysis of a large dataset indicates that internal transcribed spacer (ITS) should be incorporated into the core barcode for seed plants //Proc Natl Acad Sci U S A. 2011. V. 108. P. 19641-19646.
30. Choudhry Z., Sengupta S.M., Grizenko N., Thakur G.A., Fortier M.E., Schmitz N., Joober R. Association between obesity-related gene FTO and ADHD // Obesity (Silver Spring). 2013 Mar 20. doi: 10.1002/oby.20444. [Epub ahead of print]
31. Clop A., Vidal O., Amills M. Copy number variation in the genomes of domestic animals // Anim Genet. 2012. V. 43. P. 503-517.
32. Cokus S.J., Feng S., Zhang X., Chen Z., Merriman B., Haudenschild C.D., Pradhan S., Nelson S.F., Pellegrini M., Jacobsen S.E. Shotgun bisulphite sequencing of the Arabidopsis genome reveals DNA methylation patterning // Nature. 2008. V. 452. P. 215-219.
33. Cooper G.M., Zerr T., Kidd J.M., Eichler E.E., Nickerson D.A. Systematic assessment of copy number variant detection via genome-wide SNP genotyping // Nat. Genet. 2008. V. 40. P. 1199-1203.
34. Corradi N., Pombert J.F., Farinelli L., Didier E.S., Keeling P.J. The complete sequence of the smallest known nuclear genome from the microsporidian Encephalitozoon intestinalis // Nat. Commun. 2010. V.1. Article number: 77.
35. Cowan R.S., Fay M.F. Challenges in the DNA barcoding of plant material // Methods Mol. Biol. 2012. V. 862. P. 23-33.
36. Cox C.J., Foster P.G., Hirt R.P., Harris S.R., Embley T.M. The archaebacterial origin of eukaryotes // Proc. Natl. Acad. Sci. USA.2008. V. 105. P. 20356-20361.
37. Cyranoski D. Chinese bioscience: The sequence factory // Nature. 2010. V. 464. P. 22-24.
38. David S.P., Hamidovic A., Chen G.K., Bergen A.W., Wessel J., Kasberger J.L., Brown W.M., Petruzella S., Thacker E.L., Kim Y., Nalls M.A., Tranah G.J., Sung Y.J., Ambrosone C.B., Arnett D., Bandera E.V., Becker D.M., Becker L, Berndt S.I., Bernstein L., Blot W.J., Broeckel U., Buxbaum S.G., Caporaso N., Casey G., Chanock S.J., Deming S.L., Diver W.R., Eaton C.B., Evans D.S., Evans M.K., Fornage M., Franceschini N., Harris T.B., Henderson B.E., Hernandez D.G., Hitsman B., Hu J.J., Hunt S.C., Ingles S.A., John E.M., Kittles R., Kolb S., Kolonel L.N., Le Marchand L., Liu Y., Lohman K.K., McKnight B., Millikan R.C., Murphy A., Neslund-Dudas C., Nyante S., Press M., Psaty B.M., Rao D.C., Redline S., Rodriguez-Gil J.L., Rybicki B.A., Signorello L.B., Singleton A.B., Smoller J., Snively B., Spring B., Stanford J.L., Strom S.S., Swan G.E., Taylor K.D., Thun M.J., Wilson A.F., Witte J.S., Yamamura Y., Yanek L.R., Yu K., Zheng W., Ziegler R.G., Zonderman A.B., Jorgenson E., Haiman C.A., Furberg H. Genome-wide meta-analyses of smoking behaviors in African Americans // Transl Psychiatry. 2012. V. 2. e119.
39. Dellinger A.E., Saw S.M., Goh L.K., Seielstad M., Young T.L., Li Y.J. Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays // Nucleic Acids Res. 2010. V. 38. e105.
40. Denny JC, Bastarache L, Ritchie MD, Carroll RJ, Zink R, Mosley JD, Field JR, Pulley JM, Ramirez AH, Bowton E, Basford MA, Carrell DS, Peissig PL, Kho AN, Pacheco JA, Rasmussen LV, Crosslin DR, Crane PK, Pathak J, Bielinski SJ, Pendergrass SA, Xu H, Hindorff LA, Li R, Manolio TA, Chute CG, Chisholm RL, Larson EB, Jarvik GP, Brilliant MH, McCarty CA, Kullo IJ, Haines JL, Crawford DC, Masys DR, Roden DM. Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data // Nat. Biotechnol. 2013. V.31. P.1102-1110.
41. De Souza Y.G., Greenspan J.S. Biobanking past, present and future: responsibilities and benefits // AIDS. 2013. 27. P. 303-312.
42. Dhawan D., Padh H. Pharmacogenetics: technologies to detect copy number variations // Curr. Opin. Mol. Ther. 2009. V. 11. P. 670-680.
43. Dib C., Fauré S., Fizames C., Samson D., Drouot N., Vignal A., Millasseau P., Marc S., Hazan J., Seboun E., Lathrop M., Gyapay G., Morissette J., Weissenbach J. A comprehensive genetic map of the human genome based on 5,264 microsatellites // Nature. 1996. V. 380. 152-154.
44. Doan R., Cohen N., Harrington J., Veazy K., Juras R., Cothran G., McCue M.E., Skow L., Dindot S. V. Identification of copy number variants in horses // Genome Res. 2012. V. 22. P. 899-907.
45. Donis-Keller H., Green P., Helms C., Cartinhour S., Weiffenbach B., Stephens K., Keith T.P., Bowden D.W., Smith D.R., Lander E.S., et al. A genetic linkage map of the human genome // Cell. 1987. V. 51. P. 319-337.
46. Drgon T., Montoya I., Johnson C., Liu Q.R., Walther D., Hamer D., Uhl G.R. Genome-wide association for nicotine dependence and smoking cessation success in NIH research volunteers // Mol Med. 2009. V. 15. P. 21-27.
47. Drgon T., Johnson C., Walther D., Albino A.P., Rose J.E., Uhl G.R. Genome-wide association for smoking cessation success: participants in a trial with adjunctive denicotinized cigarettes // Mol. Med. 2009a. V.15. P.268-274.
48. Du Y., Xie J., Chang W., Han Y., Cao G. Genome-wide association studies: inherent limitations and future challenges // Front Med. 2012. V. 6. P. 444-450.
49. Dubé J.B., Hegele R.A. Genetics 100 for cardiologists: basics of genome-wide association studies // Can. J. Cardiol. 2013. V. 29. P. 10-17.
50. Dube S., Qin J., Ramakrishnan R. Mathematical analysis of copy number variation in a DNA sample using digital PCR on a nanofluidic device // PLoS One. 2008. V. 3. e2876.
51. Duck W.M., Steward C.D., Banerjee S.N., McGowan J.E. Jr., Tenover F.C. Optimization of computer software settings improves accuracy of pulsed-field gel electrophoresis macrorestriction fragment pattern analysis // J. Clin. Microbiol. 2003. V.41. P.3035-3042.
52. Emelyanov V.V. Common evolutionary origin of mitochondrial and rickettsial respiratory chains // Arch. Biochem. Biophys. 2003. V.420. P.130-141.
53. Emelyanov V.V. Mitochondrial connection to the origin of the eukaryotic cell // Eur. J. Biochem. 2003a. V. 270. P. 1599-1618.
54. Emelyanov V.V. Rickettsiaceae, rickettsia-like endosymbionts, and the origin of mitochondria // Biosci Rep. 2001. V. 21. P. 1-17.
55. Fang G, Munera D, Friedman DI, Mandlik A, Chao MC, Banerjee O, Feng Z, Losic B, Mahajan MC, Jabado OJ, Deikus G, Clark TA, Luong K, Murray IA, Davis BM, Keren-Paz A, Chess A, Roberts RJ, Korlach J, Turner SW, Kumar V, Waldor MK, Schadt EE. Genome-wide mapping of methylated adenine residues in pathogenic Escherichia coli using single-molecule real-time sequencing // Nat. Biotechnol. 2012. V.30. P.1232-1239. Erratum in Nat. Biotechnol. 2013. V.31. P.566.
56. Feulgen R, Rossenbeck H. Mikroskopisch-chemischer Nachweis einer Nucleinsäure vom Typus der Thymonukleinsäure und die darauf beruhende elektive Färbung von Zellkernen in mikroskopischen Präparaten // Hoppe-Seyler's Zeitschr. Physiologis. Chem. 1924. V.135. P.203–248.
57. Flusberg BA, Webster DR, Lee JH, Travers KJ, Olivares EC, Clark TA, Korlach J, Turner SW. Direct detection of DNA methylation during single-molecule, real-time sequencing // Nat. Methods. 2010. V.7. P.461-465.
58. Forner K., Lamarine M., Guedj M., Dauvillier J., Wojcik J. Universal false discovery rate estimation methodology for genome-wide association studies // Hum Hered. 2008. V. 65. P. 183-194.
59. Forterre P. A new fusion hypothesis for the origin of Eukarya: better than previous ones, but probably also wrong // Res. Microbiol. 2011. V. 162. P. 77-91.
60. Forterre P. Why are there so many diverse replication machineries? // J. Mol. Biol. 2013 . V. 425. P. 4714-4726.
61. Frayling T.M., Ong K. Piecing together the FTO jigsaw // Genome Biol. 2011. V. 12. P. 104.
62. Frayling T.M., Timpson N.J., Weedon M.N., Zeggini E., Freathy R.M., Lindgren C.M., Perry J.R., Elliott K.S., Lango H., Rayner N.W., Shields B, Harries L.W., Barrett J.C., Ellard S, Groves C.J., Knight B., Patch A.M., Ness A.R., Ebrahim S., Lawlor D.A., Ring S.M., Ben-Shlomo Y., Jarvelin M.R., Sovio U., Bennett A.J., Melzer D., Ferrucci L., Loos R.J., Barroso I., Wareham N.J., Karpe F., Owen K.R., Cardon L.R., Walker M., Hitman G.A., Palmer C.N., Doney A.S., Morris A.D., Smith G.D., Hattersley A.T., McCarthy M.I. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity // Science. 2007. V. 316. P. 889-894.
63. Freeman J.L., Perry G.H., Feuk L. et al. Copy number variation: New insights in genome diversity // Genome Res. 2006. V. 16. P. 949-961.
64. Friz C.T. The biochemical composition of the free-living amoebae Chaos chaos, Amoeba dubia and Amoeba proteus // Comp. Biochem. Physiol. 1968. V. 26. P. 81-90.
65. Furberg H., Ostroff J., Lerman C., Sullivan P.F. The public health utility of genome-wide association study results for smoking behavior // Genome Med. 2010. V. 2. P. 26.
66. Furukawa H., Oka S., Matsui T., Hashimoto A., Arinuma Y., Komiya A., Fukui N., Tsuchiya N., Tohma S. Genome, epigenome and transcriptome analyses of a pair of monozygotic twins discordant for systemic lupus erythematosus // Hum Immunol. 2013. V. 74. P. 170-175.
67. Gamazon E.R., Huang R.S., Dolan M.E., Cox N.J. Copy number polymorphisms and anticancer pharmacogenomics // Genome Biol. 2011. 12. R46.
68. Gerken T., Girard C.A., Tung Y.C., Webby C.J., Saudek V., Hewitson K.S., Yeo G.S., McDonough M.A., Cunliffe S., McNeill L.A., Galvanovskis J., Rorsman P., Robins P., Prieur X., Coll A.P., Ma M., Jovanovic Z., Farooqi I.S., Sedgwick B., Barroso I., Lindahl T., Ponting C.P., Ashcroft F.M., O'Rahilly S., Schofield C.J. The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase // Science. 2007. V. 318. P. 1469-1472.
69. Gershon E.S., Alliey-Rodriguez N., Liu C. After GWAS: searching for genetic risk for schizophrenia and bipolar disorder // Am J Psychiatry. 2011. V. 168. P. 253-256.
70. Gibson G. Rare and common variants: twenty arguments // Nat. Rev. Genet. 2012. V. 13. P. 135-145.
71. Gill B.S., Appels R., Botha-Oberholster A.M., Buell C.R., Bennetzen J.L., Chalhoub B., Chumley F., Dvorák J., Iwanaga M., Keller B., Li W., McCombie W.R., Ogihara Y., Quetier F., Sasaki T. A workshop report on wheat genome sequencing: International Genome Research on Wheat Consortium // Genetics. 2004. V.168. P.1087-`1096.
72. Goering R.V. Pulsed field gel electrophoresis: a review of application and interpretation in the molecular epidemiology of infectious disease // Infect. Genet. Evol. 2010. V.10. P.866-875.
73. Goffeau, A., Barrell, B.G., Bussey, H., Davis, R.W., Dujon, B., Feldman, H., Galibert, F., Hoheisel, J.D., Jacq, C., Johnston, M., Louis, E.J., Mewes, H.W., Murakami, Y., Philipsen, P., Tettelin, H., Oliver, S.G. Life with 6000 genes // Science. 1996. V.274. P.546-567.
74. Goris J., Konstantinidis K.T., Klappenbach J.A., Coenye T., Vandamme P., Tiedje J.M. DNA-DNA hybridization values and their relationship to whole-genome sequence similarities // Int. J. Syst. Evol. Microbiol. 2007. V. 57. P. 81-91.
75. Goyal A., Bandopadhyay R., Sourdille P., Endo T.R., Balyan H.S., Gupta P.K. Physical molecular maps of wheat chromosomes // Funct. Integr. Genomics. 2005. V. 5. P. 260-263.
76. Gray I.C., Campbell D.A., Spurr N.K. Single nucleotide polymorphisms as tools in human genetics // Hum. Mol. Genet. 2000. V.9. P.2403-2408.
77. Gregory T.R. Coincidence, coevolution, or causation? DNA content, cell size, and the C-value enigma // Biol. Rev. Camb. Philos. Soc. 2001. V. 76. P. 65-101.
78. Gregory T.R. Synergy between sequence and size in large-scale genomics // Nat. Rev. Genet. 2005. V. 6. P. 699-708.
79. Gregory T.R.The C-value enigma in plants and animals: a review of parallels and an appeal for partnership // Ann. Bot. 2005. V. 95. P. 133-146.
80. Greilhuber J. Cytochemistry and C-values: the less-well-known world of nuclear DNA amounts // Ann. Bot. 2008. V. 101. P. 791-804.
81. Greilhuber J., Borsch T., Müller K., Worberg A., Porembski S., Barthlott W. Smallest angiosperm genomes found in lentibulariaceae, with chromosomes of bacterial size // Plant Biol. (Stuttg). 2006. V. 8. P. 770-777.
82. Greilhuber J., Dolezel J. 2C or not 2C: a closer look at cell nuclei and their DNA content // Chromosoma. 2009. V. 118. P. 391-400.
83. Greilhuber J., Dolezel J., Lysák M.A., Bennett M.D. The origin, evolution and proposed stabilization of the terms 'genome size' and 'C-value' to describe nuclear DNA contents // Ann. Bot. 2005. V. 95. 255-260.
84. Gupta P.K., Mir R.R., Mohan A., Kumar J. Wheat genomics: present status and future prospects // Int. J. Plant Genomics. 2008. Article ID 896451. 36 pp.
85. Haga H., Yamada R., Ohnishi Y., Nakamura Y., Tanaka T. Gene-based SNP discovery as part of the Japanese Millennium Genome Project: identification of 190,562 genetic variations in the human genome. Single-nucleotide polymorphism // J. Hum. Genet. 2002. V. 47. 605-610.
86. Hakonarson H., Grant S.F. Planning a genome-wide association study: points to consider // Ann Med. 2011. V. 43. P. 451-460
87. Han Z., Niu T., Chang J., Lei X., Zhao M., Wang Q., Cheng W., Wang J., Feng Y., Chai J. Crystal structure of the FTO protein reveals basis for its substrate specificity // Nature. 2010. V. 464. P. 1205-1209.
88. Handsaker R.E., Korn J.M., Nemesh J., McCarroll S.A. Discovery and genotyping of genome structural polymorphism by sequencing on a population scale // Nat. Genet. 2011. V. 43. P. 269-276.
89. Harris J.R., Burton P., Knoppers B.M., Lindpaintner K., Bledsoe M., Brookes A.J., Budin-Ljøsne I., Chisholm R., Cox D., Deschênes M., Fortier I., Hainaut P., Hewitt R., Kaye J., Litton J.E., Metspalu A., Ollier B., Palmer L.J., Palotie A., Pasterk M., Perola M., Riegman P.H., van Ommen G.J., Yuille M., Zatloukal K. Toward a roadmap in global biobanking for health // Eur J Hum Genet. 2012. V. 20. P. 1105-1111.
90. He Y., Hoskins J.M., McLeod H.L. Copy number variants in pharmacogenetic genes // Trends Mol Med. 2011. V. 17. P. 244-251.
91. Hebert P.D., Cywinska A., Ball S.L., deWaard J.R. Biological identifications through DNA barcodes // Proc Biol Sci. 2003. V. 270. P. 313-321.
92. Heller F.O. DNS-Bestimmung an Keimwurzeln von Vicia faba L. mit Hilfe der Impulscytophotometrie // Ber. Deutsch. Bot. Ges. (now – Plant Biology) 1973. V. 86. P.437–441.
93. Henrichsen C.N., Chaignat E., Reymond A. Copy number variants, diseases and gene expression // Hum. Mol. Genet. 2009. V. 18. R1-8.
94. Hindorff L.A., Sethupathy P., Junkins H.A., Ramos E.M., Mehta J.P., Collins F.S., Manolio T.A. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits // Proc Natl Acad Sci U S A. 2009. V. 106. P. 9362-9367.
95. Hollingsworth P.M. Refining the DNA barcode for land plants // Proc Natl Acad Sci USA. 2011. V. 108. P. 19451-19452.
96. Hollox E.J., Huffmeier U., Zeeuwen P.L. et al. Psoriasis is associated with increased beta-defensin genomic copy number // Nat. Genet. 2008. V. 40. P. 23-25.
97. Homuth G., Teumer A., Völker U., Nauck M. A description of large-scale metabolomics studies: increasing value by combining metabolomics with genome-wide SNP genotyping and transcriptional profiling // J Endocrinol. 2012. V. 215. P. 17-28.
98. Hongoh Y., Toyoda A. Whole-genome sequencing of unculturable bacterium using whole-genome amplification // Methods Mol. Biol. 2011. V.733. P.25-33.
99. Hood L., Flores M. A personal view on systems medicine and the emergence of proactive P4 medicine: predictive, preventive, personalized and participatory // N. Biotechnol. 2012. V. 29. P. 613-624.
100. Huang Z., Wang J., Wu C.C., Houlston R.S., Bondy M.L., Shete S. False-Negative-Rate Based Approach for Selecting Top Single-Nucleotide Polymorphisms in the First Stage of a Two-Stage Genome-Wide Association Study // Stat. Interface. 2011. V. 4. P. 359-371.
101. Hubacek JA, Dlouha D, Lanska V, Adamkova V. Lack of an association between three tagging SNPs within the FTO gene and smoking behavior // Nicotine Tob. Res. 2012. V.14. P.998-1002.
102. Hubacek J.A, Piper B.J., Pikhart H., Peasey A., Kubinova R., Bobak M. Lack of an association between left-handedness and APOE polymorphism in a large sample of adults: Results of the Czech HAPIEE study // Laterality. 2013. V.18. P.513-519.
103. Hubacek J.A., Stanek V., Gebauerová M., Pilipcincová A., Dlouhá D., Poledne R, Aschermann M., Skalická H, Matousková J., Kruger A., Penicka M., Hrabáková H., Veselka J., Hájek P., Lánská V., Adámková V., Pitha J. A FTO variant and risk of acute coronary syndrome // Clin Chim Acta. 2010. V. 411. P. 1069-1072.
104. Hüebner C, Petermann I, Browning BL, Shelling AN, Ferguson LR. Triallelic single nucleotide polymorphisms and genotyping error in genetic epidemiology studies: MDR1 (ABCB1) G2677/T/A as an example // Cancer Epidemiol. Biomarkers Prev. 2007. V.16. P.1185-1192.
105. Huynh J.L., Casaccia P. Epigenetic mechanisms in multiple sclerosis: implications for pathogenesis and treatment // Lancet Neurol. 2013. V. 12. P. 195-206.
106. Iafrate A.J., Feuk L., Rivera M.N., Listewnik M.L., Donahoe P.K., Qi Y., Scherer S.W., Lee C. Detection of large-scale variation in the human genome // Nat Genet. 2004. V. 36. P. 949-951.
107. Ibba A., Pilia S., Zavattari P., Loche A., Guzzetti C., Casini M.R., Minerba L., Loche S. The role of FTO genotype on eating behavior in obese Sardinian children and adolescents // J. Pediatr Endocrinol. Metab. 2013 V. 26. P. 539-544.
108. Iles M.M., Law M.H., Stacey S.N., Han J., Fang S., Pfeiffer R., Harland M., Macgregor S., Taylor J.C., Aben K.K., Akslen L.A., Avril M.F., Azizi E., Bakker B., Benediktsdottir K.R., Bergman W, Scarrà G.B., Brown K.M., Calista D., Chaudru V., Fargnoli M.C., Cust A.E., Demenais F., de Waal A.C., Dębniak T., Elder D.E., Friedman E., Galan P., Ghiorzo P., Gillanders E.M., Goldstein A.M., Gruis N.A., Hansson J., Helsing P., Hočevar M., Höiom V., Hopper J.L., Ingvar C., Janssen M., Jenkins M.A., Kanetsky P.A., Kiemeney L.A., Lang J., Lathrop G.M., Leachman S., Lee J.E., Lubiński J., Mackie R.M., Mann G.J., Martin N.G., Mayordomo J.I., Molven A., Mulder S., Nagore E., Novaković S., Okamoto I., Olafsson J.H., Olsson H., Pehamberger H., Peris K., Grasa M.P., Planelles D., Puig S., Puig-Butille J.A., Randerson-Moor J., Requena C., Rivoltini L., Rodolfo M., Santinami M., Sigurgeirsson B., Snowden H., Song F., Sulem P., Thorisdottir K., Tuominen R., Van Belle P., van der Stoep N., van Rossum M.M., Wei Q., Wendt J., Zelenika D., Zhang M., Landi M.T., Thorleifsson G., Bishop D.T., Amos C.I., Hayward N.K., Stefansson K., Bishop J.A., Barrett J.H; GenoMEL Consortium; Q-MEGA and AMFS Investigators. A variant in FTO shows association with melanoma risk not due to BMI // Nat. Genet. 2013. V. 45. P. 428-432, 432e1.
109. International Human Genome Sequencing Consortium Initial sequencing and analysis of the human genome // Nature. 2001. V.409. P.860-921. 
110. Ioannidis J.P. Why most discovered true associations are inflated // Epidemiology. 2008. V. 19. P. 640-648.
111. Ionita-Laza I., Rogers A.J., Lange C., Raby B.A., Lee C. Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis // Genomics. 2009. V. 93. P. 22-26.
112. Jiang C., Wright R.J., El-Zik K.M., Paterson A.H. Polyploid formation created unique avenues for response to selection in Gossypium (cotton) // Proc. Nat. Acad. Sci. USA. 1998. V. 95. P. 4419-4424.
113. Juran B.D., Lazaridis K.N. Genomics in the post-GWAS era // Semin. Liver Dis. 2011. V. 31. P. 215-222.
114. Kane N.C., Cronk Q. Botany without borders: barcoding in focus // Mol. Ecol. 2008. V. 17. P. 5175-5176.
115. Kaneko T., Nakamura Y., Sato S., Asamizu E., Kato T., Sasamoto S., Watanabe A., Idesawa K., Ishikawa A., Kawashima K., Kimura T., Kishida Y., Kiyokawa C., Kohara M., Matsumoto M., Matsuno A., Mochizuki Y., Nakayama S., Nakazaki N., Shimpo S., Sugimoto M., Takeuchi C., Yamada M., Tabata S. Complete genome structure of the nitrogen-fixing symbiotic bacterium Mesorhizobium loti // DNA Res. 2000. V.7. P.331-338.
116. Konstantinidis K.T., Tiedje J.M. Genomic insights that advance the species definition for prokaryotes // Proc Natl Acad Sci U S A. 2005. V. 102. P. 2567-2572.
117. Korol A., Frenkel Z., Orion O., Ronin Y. Some ways to improve QTL mapping accuracy // Anim Genet. 2012. V. 43. P. 36-44.
118. Korte A., Farlow A. The advantages and limitations of trait analysis with GWAS: a review // Plant Methods. 2013. 9:29.
119. Kraaijeveld K. Genome Size and Species Diversification // Evol. Biol. 2010. V. 37. P. 227-233.
120. Kreck B., Marnellos G., Richter J., Krueger F., Siebert R., Franke A. B-SOLANA: an approach for the analysis of two-base encoding bisulfite sequencing data // Bioinformatics. 2012. V. 28. P. 428-429.
121. Ku C.S., Loy E.Y., Salim A., Pawitan Y., Chia K.S. The discovery of human genetic variations and their use as disease markers: past, present and future // J. Hum. Genet. 2010. V. 55. P. 403-415.
122. Kullo I.J., Cooper LT. Early identification of cardiovascular risk using genomics and proteomics // Nat. Rev .Cardiol. 2010. V. 7. P. 309-317.
123. Lake J.A., Skophammer R.G., Herbold C.W., Servin J.A. Genome beginnings: rooting the tree of life // Philos. Trans. R. Soc. Lond. B. Biol. Sci. 2009. V. 364. P. 2177-2185.
124. Lander E.S., Linton L.M., Birren B., Nusbaum C., Zody M.C. et al. International Human Genome Sequencing Consortium Initial sequencing and analysis of the human genome // Nature. 2001. V. 409. P. 860-921.
125. Lasken R.S. Genomic sequencing of uncultured microorganisms from single cells // Nat Rev Microbiol. 2012. V. 10. P. 631-640.
126. Ledford H. Garage biotech: Life hackers // Nature. 2010. V. 467. P. 650-652.
127. Lee C., Hyland C., Lee A.S., Hislop S., Ihm C. Copy number variation and human health / Essentials of Genomic and Personalized Medicine. Ginsburg G.S., Willard H.F. (Eds). 2010. P.46-59.
128. Leroy S., Bouamer S., Morand S., Fargette M. Genome size of plant-parasitic nematodes // Nematology. 2007. V.9. P.449-450.
129. Li T., Wu K., You L., Xing X., Wang P., Cui L., Liu H., Cui Y., Bian Y., Ning Y., Zhao H., Tang R., Chen Z.J. Common Variant rs9939609 in Gene FTO Confers Risk to Polycystic Ovary Syndrome // PLoS One. 2013. V. 8. e66250.
130. Li W., Olivier M. Current analysis platforms and methods for detecting copy number variation // Physiol Genomics. 2013. V. 45. P. 1-16.
131. Lister R, Pelizzola M, Dowen RH, Hawkins RD, Hon G, Tonti-Filippini J, Nery JR, Lee L, Ye Z, Ngo QM, Edsall L, Antosiewicz-Bourget J, Stewart R, Ruotti V, Millar AH, Thomson JA, Ren B, Ecker JR. Human DNA methylomes at base resolution show widespread epigenomic differences // Nature. 2009. V.462. P.315-322.
132. Litt M., Luty J.A. A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene // Am. J. Hum. Genet. 1989. V. 44. P. 397-401.
133. Liu G.E., Bickhart D.M. Copy number variation in the cattle genome // Funct. Integr. Genomics. 2012. V.12. P609-624.
134. Liu Y.J., Papasian C.J., Liu J.F., Hamilton J., Deng H.W. Is replication the gold standard for validating genome-wide association findings? // PLoS One. 2008. V. 3. e4037.
135. Logan N.A., Berge O., Bishop A.H., Busse H.J., De Vos P., Fritze D., Heyndrickx M., Kämpfer P., Rabinovitch L., Salkinoja-Salonen M.S., Seldin L., Ventosa A. Proposed minimal standards for describing new taxa of aerobic, endospore-forming bacteria // Int. J. Syst. Evol. Microbiol. 2009. V. 59. P. 2114-2121.
136. Loukola A., Wedenoja J., Keskitalo-Vuokko K., Broms U., Korhonen T., Ripatti S., Sarin A.P., Pitkäniemi J., He L., Häppölä A., Heikkilä K., Chou Y.L., Pergadia M.L., Heath A.C., Montgomery G.W., Martin N.G., Madden P.A., Kaprio J. Genome-wide association study on detailed profiles of smoking behavior and nicotine dependence in a twin sample // Mol Psychiatry. 2013. Jun 11. doi: 10.1038/mp.2013.72. [Epub ahead of print]
137. Manolio T.A. Bringing genome-wide association findings into clinical use // Nat. Rev. Genet. 2013. V. 14. P. 549-558.
138. Manolio T.A. Genomewide association studies and assessment of the risk of disease // N. Engl. J. Med. 2010. V. 363. P. 166-176.
139. Maouche S., Schunkert H. Strategies beyond genome-wide association studies for atherosclerosis // Arterioscler Thromb. Vasc. Biol. 2012. V. 32. P. 170-181.
140. Marshall I.P., Blainey P.C., Spormann A.M., Quake S.R. A Single-cell genome for Thiovulum sp. // Appl Environ Microbiol. 2012. V. 78. P. 8555-8563.
141. Martin W., Müller M. The hydrogen hypothesis for the first eukaryote // Nature. 1998. V. 392. P. 37-41.
142. May RM. How many species are there on Earth? // Science. 1988. V. 24. P. 1441-1449.
143. May R.M. How many species? // Phil. Trans. R. Soc. Lond. 1990. V. 330. P. 293-304.
144. McCarroll S.A., Kuruvilla F.G., Korn J.M. et al. Integrated detection and population-genetic analysis of SNPs and copy number variation // Nat. Genet. 2008. V. 40. P. 1166-1174.
145. McDonnell S.K., Riska S.M., Klee E.W. et al. Experimental designs for array comparative genomic hybridization technology // Cytogenet. Genome Res. 2013. V. 139. P. 250-257.
146. Melén E., Granell R., Kogevinas M., Strachan D., Gonzalez J.R., Wjst M., Jarvis D., Ege M., Braun-Fahrländer C., Genuneit J., Horak E., Bouzigon E., Demenais F., Kauffmann F., Siroux V., Michel S., von Berg A., Heinzmann A., Kabesch M., Probst-Hensch N.M., Curjuric I., Imboden M., Rochat T., Henderson J., Sterne J.A., McArdle W.L., Hui J., James A.L., William Musk A., Palmer L.J., Becker A., Kozyrskyj A.L., Chan-Young M., Park J.E., Leung A., Daley D., Freidin M.B., Deev I.A., Ogorodova L.M., Puzyrev V.P., Celedón J.C., Brehm J.M., Cloutier M.M., Canino G., Acosta-Pérez E., Soto-Quiros M., Avila L., Bergström A., Magnusson J., Söderhäll C., Kull I., Scholtens S., Marike Boezen H., Koppelman G.H., Wijga A.H., Marenholz I., Esparza-Gordillo J., Lau S., Lee Y.A., Standl M., Tiesler C.M., Flexeder C., Heinrich J., Myers R.A., Ober C., Nicolae D.L., Farrall M., Kumar A., Moffatt M.F., Cookson W.O., Lasky-Su J. Genome-wide association study of body mass index in 23 000 individuals with and without asthma // Clin. Exp. Allergy. 2013. V. 43. P. 463-474.
147. Metspalu M., Romero I.G., Yunusbayev B., Chaubey G., Mallick C.B., Hudjashov G., Nelis M., Mägi R., Metspalu E., Remm M., Pitchappan R., Singh L., Thangaraj K., Villems R., Kivisild T. Shared and unique components of human population structure and genome-wide signals of positive selection in South Asia // Am. J. Hum. Genet. 2011. V. 89. P. 731-744.
148. Meyer C.P., Paulay G. DNA barcoding: error rates based on comprehensive sampling PLoS Biol. 2005. V.3. e422.
149. Michels KB, Binder AM, Dedeurwaerder S, Epstein CB, Greally JM, Gut I, Houseman EA, Izzi B, Kelsey KT, Meissner A, Milosavljevic A, Siegmund KD, Bock C, Irizarry RA. Recommendations for the design and analysis of epigenome-wide association studies // Nat. Methods. 2013. V.10. P.949-955.
150. Miller R.D., Kwok P.Y. The birth and death of human single-nucleotide polymorphisms: new experimental evidence and implications for human history and medicine // Hum. Mol. Genet. 2001. V. 10. P. 2195-2198.
151. Miller R.D., Taillon-Miller P., Kwok P.Y. Regions of low single-nucleotide polymorphism incidence in human and orangutan xq: deserts and recent coalescences // Genomics. 2001. V. 71. P. 78-88.
152. Mills R.E., Walter K., Stewart C. et al. 1000 Genomes Project Mapping copy number variation by population-scale genome sequencing // Nature. 2011. V. 470. P. 59-65.
153. Mitra R., Bhatia C.R. Repeated and non-repeated nucleotide sequences in diploid and polyploid wheat species // Heredity. 1973. V. 31. P. 251-262.
154. Monteiro A.N., Freedman M.L. Lessons from postgenome-wide association studies: functional analysis of cancer predisposition loci // J. Intern. Med. 2013. V.274. P.414-424.
155. Montoliu I., Genick U., Ledda M., Collino S., Martin F.P., le Coutre J., Rezzi S. Current status on genome-metabolome-wide associations: an opportunity in nutrition research // Genes Nutr. 2013. V. 8. P. 19-27.
156. Mora C., Tittensor D.P., Adl S., Simpson A.G., Worm B. How many species are there on Earth and in the ocean? // PLoS Biol. 2011. V. 9. e1001127.
157. Morgan T.M., Krumholz H.M., Lifton R.P., Spertus J.A. Nonvalidation of reported genetic risk factors for acute coronary syndrome in a large-scale replication study // JAMA. 2007. V.297. P.1551-61. Erratum in: JAMA. 2007. V.298. P.973.
158. Morita A., Nakayama T., Doba N., Hinohara Sh., Mizutani T., Soma M. Genotyping of triallelic SNPs using TaqMan PCR // Mol. Cell. Probes. 2007. V.21. P.171-176.
159. Müller T.D., Tschöp M.H., Hofmann S. Emerging function of fat mass and obesity-associated protein (fto) // PLoS Genet. 2013. V. 9. e1003223.
160. Nakamura Y. DNA variations in human and medical genetics: 25 years of my experience // J. Hum. Genet. 2009. V. 54. P. 1-8.
161. Nakamura Y., Leppert M., O'Connell P., Wolff R., Holm T., Culver M., Martin C., Fujimoto E., Hoff M, Kumlin E., et al. Variable number of tandem repeat (VNTR) markers for human gene mapping // Science. 1987. V. 235. P. 1616-1622.
162. Nelson KE, Clayton RA, Gill SR, Gwinn ML, Dodson RJ, Haft DH, Hickey EK, Peterson JD, Nelson WC, Ketchum KA, McDonald L, Utterback TR, Malek JA, Linher KD, Garrett MM, Stewart AM, Cotton MD, Pratt MS, Phillips CA, Richardson D, Heidelberg J, Sutton GG, Fleischmann RD, Eisen JA, White O, Salzberg SL, Smith HO, Venter JC, Fraser CM. Evidence for lateral gene transfer between Archaea and bacteria from genome sequence of Thermotoga maritime // Nature. 1999. V.399. P.323-329.
163. Nygaard V, Holden M, Løland A, Langaas M, Myklebost O, Hovig E. Limitations of mRNA amplification from small-size cell samples // BMC Genomics. 2005. V.27. P.147.
164. Ohnishi Y., Tanaka T., Ozaki K., Yamada R., Suzuki H., Nakamura Y. A high-throughput SNP typing system for genome-wide association studies // J. Hum. Genet. 2001. V.46. P.471-477.
165. Ott J., Kamatani Y., Lathrop M. Family-based designs for genome-wide association studies // Nat. Rev. Genet. 2011. V. 12. P. 465-474.
166. Ozaki K, Ohnishi Y, Iida A, Sekine A, Yamada R, Tsunoda T, Sato H, Sato H, Hori M, Nakamura Y, Tanaka T. Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction // Nat. Genet. 2002. V.32. P.650-654. - Erratum in: Nat. Genet. 2003. V.33. P.107.
167. Pamjav H., Juhász Z., Zalán A., Németh E., Damdin B. A comparative phylogenetic study of genetics and folk music // Mol. Genet. Genomics. 2012. V. 287. P. 337-349.
168. Pankratz N., Dumitriu A., Hetrick K.N. et al. PSG-PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories Copy number variation in familial Parkinson disease // PLoS One. 2011. V. 6. e20988.
169. Patrushev L.I., Minkevich I.G. The problem of the eukaryotic genome size // Biochemistry (Mosc). 2008. V.73. P.1519-1552.
170. Patterson M., Cardon L. Replication publication // PLoS Biol. 2005. V. 3. e327.
171. Pearson T.A., Manolio T.A. How to interpret a genom-wide association study // JAMA. 2008. V. 299. P. 1335-1344.
172. Pearson T.A., Manolio T.A. How to interpret a genome-wide association study // JAMA. 2008. V.299. P.1335-44. Erratum in: JAMA. 2008. V.299. P.2150.
173. Pedersen R.A. DNA content, ribosomal gene multiplicity, and cell size in fish // J. Experiment. Zool. 1971. V.177. P. 65-79.
174. Pellicer J., Garcia S., Canela M.A. et al. Genome size dynamics in Artemisia L. (Asteraceae): following the track of polyploidy // Plant Biol. (Stuttg). 2010. V. 12. P. 820-830.
175. Peters U., North K.E., Sethupathy P., Buyske S., Haessler J., Jiao S., Fesinmeyer M.D., Jackson R.D., Kuller L.H., Rajkovic A., Lim U., Cheng I., Schumacher F.,Wilkens L., Li R., Monda K., Ehret G., Nguyen K.D., Cooper R., Lewis C.E., Leppert M., Irvin M.R., Gu C.C., Houston D., Buzkova P., Ritchie M., Matise T.C., Le Marchand L., Hindorff L.A., Crawford D.C., Haiman C.A., Kooperberg C. A systematic mapping approach of 16q12.2/FTO and BMI in more than 20,000 African Americans narrows in on the underlying functional variation: results from the Population Architecture using Genomics and Epidemiology (PAGE) study // PLoS Genet. 2013. V. 9. e1003171.
176. Philippe N., Legendre M., Doutre G. et al. Pandoraviruses: amoeba viruses with genomes up to 2.5 Mb reaching that of parasitic eukaryotes. // Science. 2013. V. 341. P. 281-286.
177. Pont C., Murat F., Guizard S. et al. Wheat syntenome unveils new evidences of contrasted evolutionary plasticity between paleo- and neoduplicated subgenomes // Plant J. 2013. V. 76. P. 1030-1044.
178. Poole A.M., Penny D. Evaluating hypotheses for the origin of eukaryotes // Bioessays. 2007. V. 29. P. 74-84.
179. Price A.L., Zaitlen N.A., Reich D., Patterson N. New approaches to population stratification in genome-wide association studies // Nat Rev Genet. 2010. V. 11. P. 459-463.
180. Priebe L, Degenhardt F, Strohmaier J, Breuer R, Herms S, Witt SH, Hoffmann P, Kulbida R, Mattheisen M, Moebus S, Meyer-Lindenberg A, Walter H, Mössner R, Nenadic I, Sauer H, Rujescu D, Maier W, Rietschel M, Nöthen MM, Cichon S. Copy number variants in German patients with schizophrenia // PLoS One. 2013. V.8. e64035.
181. Queitsch C., Carlson K.D., Girirajan S. Lessons from model organisms: phenotypic robustness and missing heritability in complex disease // PLoS Genet. 2012. V. 8. e1003041.
182. Raghunathan A., Ferguson H.R.Jr., Bornarth C.J., Song W., Driscoll M., Lasken R.S. Genomic DNA amplification from a single bacterium // Appl Environ Microbiol. 2005. V. 71. P. 3342-3347.
183. Rakyan V.K., Down T.A., Balding D.J., Beck S. Epigenome-wide association studies for common human diseases // Nat Rev Genet. 2011. V.12. P. 529-541.
184. Redon R., Ishikawa S., Fitch K.R., Feuk L., Perry G.H., Andrews T.D., Fiegler H., Shapero M.H., Carson A.R., Chen W., Cho E.K., Dallaire S., Freeman J.L., González J.R., Gratacòs M., Huang J., Kalaitzopoulos D., Komura D., MacDonald J.R., Marshall C.R., Mei R., Montgomery L., Nishimura K., Okamura K., Shen F., Somerville M.J., Tchinda J., Valsesia A., Woodwark C., Yang F., Zhang J., Zerjal T., Zhang J., Armengol L., Conrad D.F., Estivill X., Tyler-Smith C., Carter N.P., Aburatani H., Lee C., Jones K.W., Scherer S.W., Hurles M.E. Global variation in copy number in the human genome // Nature. 2006. V. 444. P. 444-454.
185. Reich D., Patterson N., Campbell D., Tandon A., Mazieres S., Ray N., Parra M.V., Rojas W. , Duque C., Mesa N., García L.F., Triana O., Blair S., Maestre A., Dib J.C.,Bravi C.M., Bailliet G., Corach D., Hünemeier T., Bortolini M.C., Salzano F.M., Petzl-Erler M.L., Acuña-Alonzo V., Aguilar-Salinas C., Canizales-Quinteros S., Tusié-Luna T., Riba L., Rodríguez-Cruz M., Lopez-Alarcón M., Coral-Vazquez R., Canto-Cetina T., Silva-Zolezzi I., Fernandez-Lopez J.C., Contreras A.V., Jimenez-Sanchez G., Gómez-Vázquez M.J., Molina J., Carracedo A., Salas A., Gallo C., Poletti G., Witonsky D.B., Alkorta-Aranburu G., Sukernik R.I., Osipova L., Fedorova S.A., Vasquez R., Villena M., Moreau C., Barrantes R., Pauls D., Excoffier L., Bedoya G., Rothhammer F., Dugoujon J.M., Larrouy G., Klitz W., Labuda D., Kidd J., Kidd K., Di Rienzo A., Freimer N.B., Price A.L., Ruiz-Linares A. Reconstructing Native American population history // Nature. 2012. V. 488. P. 370-374.
186. Riancho JA, Hernández JL. Pharmacogenomics of osteoporosis: a pathway approach // Pharmacogenomics. 2012. V.13. P.815-829.
187. Risch N., Merikangas K. The future of genetic studies of complex human diseases // Science. 1996. V.273. P.1516-1517. Comments - Genetic analysis of complex diseases // Science. 1997. V.275. P. 1327-1328. Scott W.K., Pericak-Vance M.A., Haines J.L. / Bell D.A., Taylor J.A. / Long A.D., Grote M.N., Langley C.H. author reply 1329-1330.
188. Robinette S.L., Holmes E., Nicholson J.K., Dumas M.E. Genetic determinants of metabolism in health and disease: from biochemical genetics to genome-wide associations // Genome Med. 2012. V. 4. P. 30.
189. Rose J.E., Behm F.M., Drgon T., Johnson C, Uhl G.R. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score // Mol Med. 2010. V. 16. P. 247-253.
190. Rose-Zerilli M.J., Barton S.J., Henderson A.J., Shaheen S.O., Holloway J.W. Copy-number variation genotyping of GSTT1 and GSTM1 gene deletions by real-time PCR // Clin. Chem. 2009. V. 55. P. 1680-1685.
191. Rowe S.J., Tenesa A. Human complex trait genetics: lifting the lid of the genomics toolbox - from pathways to prediction // Curr. Genomics. 2012. V. 13. P. 213-224.
192. Sadee W. The relevance of "missing heritability " in pharmacogenomics // Clin. Pharmacol. Ther. 2012. V.92. P.428-423.
193. Sándor J., Bárd P., Tamburrini C., Tännsjö T. The case of biobank with the law: between a legal and scientific fiction // J Med Ethics. 2012. V. 38. P. 347-350.
194. Sathirapongsasuti J.F., Lee H., Horst B.A. et al. Exome sequencing-based copy-number variation and loss of heterozygosity detection: Exome CNV // Bioinformatics. 2011. V. 27. P. 2648-2654.
195. Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Månér S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M. Large-scale copy number polymorphism in the human genome // Science. 2004. V.305. P.525-528.
196. Shen Y., Wu B.L. Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome // J. Genet. Genomics. 2009. V. 36. P. 257-265.
197. Shimada H., Obayashi T., Takahashi N., Matsui M., Sakamoto A. Normalization using ploidy and genomic DNA copy number allows absolute quantification of transcripts, proteins and metabolites in cells // Plant Methods. 2010. V. 6. P. 29.
198. Silander K., Saarela J. Whole genome amplification with Phi29 DNA polymerase to enable genetic or genomic analysis of samples of low DNA yield // Methods Mol. Biol. 2008. V.439. P.1-18.
199. Southern E.M. Detection of specific sequences among DNA fragments separated by gel electrophoresis // J. Mol. Biol. 1975. V.98. P.503-517.
200. Southern E.M. Blotting at 25 // Trends Biochem. Sci. 2000. V.25. P.585-588.
201. Spielmann M., Klopocki E. CNVs of noncoding cis-regulatory elements in human disease // Curr. Opin. Genet. Dev. 2013. V.23. P.249-256.
202. Song J., Shi L., Li D., Sun Y., Niu Y., Chen Z., Luo H., Pang X., Sun Z., Liu C., Lv A., Deng Y., Larson-Rabin Z., Wilkinson M., Chen S. Extensive pyrosequencing reveals frequent intra-genomic variations of internal transcribed spacer regions of nuclear ribosomal DNA // PLoS One. 2012. V. 7. e43971.
203. Staats M., Erkens R.H., van de Vossenberg B., Wieringa J.J., Kraaijeveld K., Stielow B., Geml J., Richardson JE, Bakker F.T. Genomic treasure troves: complete genome sequencing of herbarium and insect museum specimens //PLoS One. 2013. V. 8. e69189.
204. Stankiewicz P., Lupski J.R. Structural variation in the human genome and its role in disease // Ann. Rev. Med. 2010. V. 61. P. 437-455.
205. Stevens H. Dr. Sanger, meet Mr. Moore: next-generation sequencing is driving new questions and new modes of research // Bioessays. 2012. V. 34. P. 103-105.
206. Stuppia L., Antonucci I., Palka G., Gatta V. Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases // Int. J. Mol. Sci. 2012. V. 13. P. 3245-3276.
207. Suhre K., Gieger C. Genetic variation in metabolic phenotypes: study designs and applications // Nat. Rev. Genet. 2012. V. 13. P. 759-769
208. Sun L., Craiu R.V., Paterson A.D., Bull S.B. Stratified false discovery control for large-scale hypothesis testing with application to genome-wide association studies // Genet Epidemiol. 2006. V. 30. P. 519-530.
209. Swift H. The constancy of desoxyribose nucleic acid in plant nuclei // Proc. Natl. Acad. Sci. USA. 1950. V. 36. P.643–654.
210. Tanaka H., Kawai T. Partial sequencing of a single DNA molecule with a scanning tunnelling microscope // Nature Nanotechnol. 2009. V.4. P.518-522.
211. Taylor H.R., Harris W.E. An emergent science on the brink of irrelevance: a review of the past 8 years of DNA barcoding // Mol Ecol Resour. 2012. V. 12. P. 377-388.
212. Thomas C.A, Jr. The genetic organization of chromosomes // Annual Rev. Genet. 1971. V. 5. P. 237-256.

220. Thomas W.K, Glover W. Direct sequencing by TEM of Z-substituted DNA molecules / Next Generation Genome Sequencing: Towards Personalized Medicine. Ed.: M.Janitz. 2008. P.103-116.

1. Tobacco and Genetics Consortium.Collaborators (116) Genome-wide meta-analyses identify multiple loci associated with smoking behavior // Nat. Genet. 2010. V. 42. P. 441-447.
2. Todd JA. Statistical false positive or true disease pathway? // Nat Genet. 2006. V. 38. P. 731-733.
3. Tung Y.C., Yeo G.S. From GWAS to biology: lessons from FTO // Ann. N. Y. Acad Sci. 2011. V. 1220. P. 162-171.
4. Turner S, Armstrong LL, Bradford Y, Carlson CS, Crawford DC, Crenshaw AT, de Andrade M, Doheny KF, Haines JL, Hayes G, Jarvik G, Jiang L, Kullo IJ, Li R, Ling H, Manolio TA, Matsumoto M, McCarty CA, McDavid AN, Mirel DB, Paschall JE, Pugh EW, Rasmussen LV, Wilke RA, Zuvich RL, Ritchie MD. Quality control procedures for genome-wide association studies // Curr. Protoc. Hum. Genet. 2011. Chapter 1. Unit1.19.
5. van Steenbergen T.J., Colloms S.D., Hermans P.W., de Graaff J., Plasterk R.H. Genomic DNA fingerprinting by restriction fragment end labeling // Proc. Natl. Acad. Sci. USA. 1995. V.92. P.5572-5576.
6. Vandeweyer G., Kooy R.F. Detection and interpretation of genomic structural variation in health and disease // Expert. Rev. Mol. Diagn. 2013. V. 13. P. 61-82.
7. Vaught J., Lockhart N.C. The evolution of biobanking best practices // Clin Chim Acta. 2012. V. 413. P. 1569-1575.
8. Vaught J.B., Henderson M.K., Compton C.C. Biospecimens and biorepositories: from afterthought to science // Cancer Epidemiol Biomarkers Prev. 2012. V. 21. P. 253-255.
9. Vesteg M., Krajčovič J. The falsifiability of the models for the origin of eukaryotes // Curr Genet. 2011. V. 57. P. 367-390.
10. Visscher P.M., Brown M.A., McCarthy M.I., Yang J. Five years of GWAS discovery // Am. J. Hum. Genet. 2012. V. 90. P. 7-24
11. Vrieze S.I., Iacono W.G., McGue M. Confluence of genes, environment, development, and behavior in a post Genome-Wide Association Study world // Dev. Psychopathol. 2012. 24. P. 1195-1214.
12. Wain L.V., Armour J.A., Tobin M.D. Genomic copy number variation, human health, and disease // Lancet. 2009. V. 374. P. 340-350.
13. Wang K., Li M., Hadley D. et al. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data // Genome Res. 2007. V. 17. P. 1665-1674.
14. Wang X., Prins B.P., Sõber S., Laan M., Snieder H. Beyond genome-wide association studies: new strategies for identifying genetic determinants of hypertension // Curr Hypertens Rep. 2011. V.13. P. 442-451.
15. Weaver S., Dube S., Mir A. et al. Taking qPCR to a higher level: Analysis of CNV reveals the power of high throughput qPCR to enhance quantitative resolution // Methods. 2010. V. 50. P. 271-276.
16. Weber J.L. Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms // Genomics. 1990. V. 7. P. 524-530.
17. Weber J.L., May P.E. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction // Am J Hum Genet. 1989. V. 44. P. 388-396.
18. Weissenbach J. Microsatellite polymorphisms and the genetic linkage map of the human genome // Curr Opin Genet Dev. 1993. V. 3. P. 414-417.
19. Weissenbach J., Gyapay G., Dib C., Vignal A., Morissette J., Millasseau P., Vaysseix G., Lathrop M. A second-generation linkage map of the human genome // Nature. 1992. V. 359. P. 794-801.
20. Westen A.A., Matai A.S., Laros J.F., Meiland H.C., Jasper M., de Leeuw W.J., de Knijff P., Sijen T. Tri-allelic SNP markers enable analysis of mixed and degraded DNA samples // Forensic Sci. Int. Genet. 2009. V. 3. P. 233-241.
21. Whale A.S., Huggett J.F., Cowen S., Speirs V., Shaw J., Ellison S., Foy C.A., Scott D.J. Comparison of microfluidic digital PCR and conventional quantitative PCR for measuring copy number variation // Nucleic Acids Res. 2012. V.40. e82.
22. Winchester L., Yau C., Ragoussis J. Comparing CNV detection methods for SNP arrays // Brief. Funct. Genomic. Proteomic. 2009. V. 8. P. 353-366.
23. Wjst M., Sargurupremraj M., Arnold M. Genome-wide association studies in asthma: what they really told us about pathogenesis // Curr Opin Allergy Clin Immunol. 2013. V. 13. P. 112-118.
24. Winkler H. Verbreitung und Ursache der Parthenogenesis im Pflanzen- und Tierreiche. 1920. Jena: Gustav Fischer Verlag.
25. Würschum T. Mapping QTL for agronomic traits in breeding populations // Theor Appl Genet. 2012. V. 125. P. 201-210.
26. Xu Y., Peng B., Fu Y., Amos C.I. Genome-wide algorithm for detecting CNV associations with diseases // BMC Bioinformatics. 2011. V.12. P. 331.
27. Yoon D., Kim Y.J., Park T. Phenotype prediction from genome-wide association studies: application to smoking behaviors // BMC Syst Biol. 2012. V. 6. S11.
28. Zeller T., Blankenberg S., Diemert P. Genomewide association studies in cardiovascular disease--an update 2011 // Clin Chem. 2012. V. 58. P. 92-103.
29. Zhang F., Gu W., Hurles M.E., Lupski J.R. Copy Number Variation in Human Health, Disease, and Evolution // Annual Review of Genomics and Human Genetics. 2009. V. 10. P.451-481.
30. Zhao W, Niu G, Shen B, Zheng Y, Gong F, Wang X, Lee J, Mulvihill JJ, Chen X, Li S. High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease // Am. J. Med. Genet. A. 2013. V.161A. P.3087-3094.
31. Zou J., Zhu J., Huang S. et al. Broadening the avenue of intersubgenomic heterosis in oilseed Brassica // Theor. Appl. Genet. 2010. V. 120. P. 283-290.