Acta NaturaeActa NaturaeActa Naturae2075-8251Acta Naturae Ltd1071110.32607/20758251-2010-2-4-15-30ArticlesСтатьиReview ArticleGenomes, Populations and Diseases: Ethnic Genomics and Personalized MedicineGenomes, Populations and Diseases: Ethnic Genomics and Personalized MedicineStepanovV Avadim.stepanov@medgenetics.ruInstitute for Medical Genetics, Siberian Branch, Russian Academy of Medical Sciences1512201024VOL 2, NO4 (2010)ТОМ 2, №4 (2010)153017012020Copyright ©; 2010, Stepanov V.A.Copyright ©; 2010, Stepanov V.A.2010Stepanov V.A.Stepanov V.A.https://creativecommons.org/licenses/by/4.0https://actanaturae.ru/2075-8251/article/view/10711

This review discusses the progress of ethnic genetics, the genetics of common diseases, and the concepts of personalized medicine. We show the relationship between the structure of genetic diversity in human populations and the varying frequencies of Mendelian and multifactor diseases. We also examine the population basis of pharmacogenetics and evaluate the effectiveness of pharmacotherapy, along with a review of new achievements and prospects in personalized genomics.

Mudrov M.Y. Izbrannie Proizvedenia (Selected Works) / Edited by Gukasyan A.G. М.: Izdatelstvo AMN SSSR, 1949. 296 pages.Sochinenia N.I. Pirogova (Essays of N.I. Pirogova). V. 1, 2. Kiev: Izdatelstvo Pirogovskogo Tovarishestva, 1910. 682 pages.Beaudet A. // Am. J. Hum. Genet. 1999. V. 64. P. 1-13.Bloom B. // Nature. 1999. V. 402. № 6761 Suppl. P. C63-64.Dausset J. // Proc. Indiannatn. Sci. Acad. 1994. V. B60. P. 449-454.Hood L., Heath J.R., Phelps M.E., Lin B. // Science. 2004. V. 306. P. 640-643.Weston A.D., Hood L. // J. Proteome Res. 2004. V. 3. P. 179-196.Auffray C., Zhu Chen, Hood L. // Genome Medicine. 2009. V. 1. P. 2.1-2.11.Puzyrev V.P., Stepanov V.A. Patalogicheskaya anatomia Cheloveka (Pathological Anatomy). Tomsk: STT, 1997. 248 c.Puzyrev V.P. Volnosti Genoma i Meditsinskaya Patogenetika (Liberties of the Genome and Medical Pathogenetics). Seriya «Nasledstvennost i Zdorovye» (“Heredity and Health”). Issue 3. Tomsk: Pechatnaya manufactura, 2001. 44 pages.Puzyrev V.P. Genomnaya meditsina - nastoyashee i budushee. Molecularno-biologicheskie tekhnologii v meditsniskoy praktike. (Genomic Medicine - Present and Future. Molecular-Biological Technology in Medical Practice). Issue 3. Novosibirsk: Alfa Vista, 2003. p. 3-26.Baranov V.S., Aseev M.V., Baranova E.V. // Priroda (Nature). 1999. № 3. p. 17-27.Baranov V.S. // Vestnik RAMN (Herald of the Russian Academy of Medical Sciences). 2000. № 10. p. 27-37.Geneticheskiy pasport - osnova individualnoy i prediktivnoy meditsini (The Genetic Passport - the Basis of Individual and Predictive Medicine) / Edited by Baranov V.S. Saint-Petersburg: Izdatelstvo Nauchnoy Literaturi, 2009. 528 p.Cavalli-Sforza L.L. // TIG. 1998. V. 14. № 2. P. 60-65.Mourant A.E. The distribution of the human blood groups. Oxford: Blackwell Scientific, 1954.Cavalli-Sforza L.L., Bodmer W.F. The genetics of human populations. San Francisco: W.H. Freeman, 1971.Mourant A.E., Kopec A.C., Domaniewska-Sobczak K. The distribution of the human blood groups and other polymorphisms. London: Oxford University Press, 1976.Cann R.L., Stoneking M., Wilson A.C. // Nature. 1987. V. 325. P. 31-36.Underhill P.A., Shen P., Lin A.A., Jin L., Passarino G., Yang W.H., Kauffman E., Bonné-Tamir B., Bertranpetit J., Francalacci P., Ibrahim M., Jenkins T., Kidd J.R., Mehdi S.Q., Seielstad M.T., Wells R.S., Piazza A., Davis R.W., Feldman M.W., Cavalli-Sforza L.L., Oefner P.J. // Nat. Genet. 2000. V. 26. P. 358-361.Jorde L.B., Bamshad M.J., Watkins W.S., Zenger R., Fraley A.E., Krakowiak P.A., Carpenter K.D., Soodyall H., Jenkins T., Rogers A.R. // Am. J. Hum. Genet. 1995. V. 57. P. 523-538.Balanovskaya E.V., Richkov Yu.G. // Genetika (Genetics). 1990. V. 26. P. 114-121.Novembre J., Johnson T., Bryc K., Kutalik Z., Boyko A.R., Auton A., Indap A., King K.S., Bergmann S., Nelson M.R., Stephens M., Bustamante C.D. // Nature. 2008. V. 456. P. 98-101.Li J.Z., Absher D.M., Tang H., Southwick A.M., Casto A.M., Ramachandran S., Cann H.M., Barsh G.S., Feldman M., Cavalli-Sforza L.L., Myers R.M. // Science. 2008. V. 319. P. 1100-1104.HUGO Pan-Asian SNP consortium. // Science. 2009. V. 326. P. 1541-1545.Auton A., Bryc K., Boyko A.R., Lohmueller K.E., Novembre J., Reynolds A., Indap A., Wright M.H., Degenhardt J.D., Gutenkunst R.N., King K.S., Nelson M.R., Bustamante C.D. // Genome Res. 2009. V. 19. P. 795-803.Genofond i genogeografiya narodonaseleniya (Gene Pool and Population Genogeography). V. I. Genofond naseleniya Rossii i sopredelnih stran (The Gene Pool of the Population of Russia and Adjacent Countries). Saint-Petersburg.: Nauka, 2000. 612 p.Stepanov V.A. Etnogenomica naseleniya Severnoy Evrazii (Ethnogenomics of Population of Northern Eurasia). Tomsk: Pechatnaya manufaktura, 2002. 242 p.Limborskaya S.A., Husnutdinova E.K., Balanovskaya E.V. Etnogenomica i genogeografiya narodov Vostochnoy Evropi (Ethnogenomics and Genogeography of Population of Eastern Europe). Moscow.: Nauka, 2002. 264 p.Fedorova S.A. Geneticheskie portreti narodov Respubliki Saha (Yakutia): analiz liniy mitohondrialnoy DNK i Y-chromosomi (Genetic Portraits of the Populations of the Sakha Republic (Yakutia): Analysis of Lines of Mitochondrial DNA and Y-chromosome). Yakutsk: Izdatelstvo YaNTs SO RAN, 2008. 235 p.Balanovskaya E.V., Balanovskiy O.P. Russkiy genofond na Russkoy ravnine (Russian Gene Pool of the Russian Plain). Moscow: Luch, 2007. 416 p.Jorde L.B., Wooding S.P. // Nat. Genet. 2004. V. 36. P. S28-S33.Stepanov V.A., Prohorchuk E.B., Husnutdinova E.K., Mazur A.M., Tesluk A., Chekanov N.N., Hrameeva E., Kharkov V.N., Gubina M.A., Kutuev I.A., Husainova R.I., Marusin A.V., Spiridonova M.G., Akhmetova V.L., Hidiyatova I.M., Litvinov S.S., Buligina E., Puzyrev V.P., Skryabin K.G. Materiali VI Rossiyskogo syezda obshestva meditsinskih genetikov (Proceedings of the VIII Congress of Russian Society of Medical Geneticists). Rostov-na-Donu. May 14-18. 2010 // Meditsinskaya genetika (Medical Genetics), 2010. P. 171.The Chimpanzee Sequencingand Analysis Consortium // Nature. 2005. V. 437. P. 69-87.Thalmann O., Fischer A., Lankester F., Paabo S., Vigilant L. // Mol. Biol. Evol. 2007. V. 24. P. 146-158.Riesch N., Burchardt E., Ziv E., Tang H. // Genome Biology. 2002. V. 3. № 7. P. 2007.1-2007.12.Tian C., Plenge R.M., Ransom M., Lee A., Villoslada P., Selmi C., Klareskog L., Pulver A.E., Qi L., Gregersen P.K., Seldin M.F. // PLoS Genetics. 2008. V. 4. № 1. e4.Indian Genome Variation Consortium. // J. Genet. 2008. V. 87. № 1. P. 3-20.Reich D., Thangaraj K., Patterson N., Price A.L., Singh L. // Nature. 2009. V. 461. P. 489-494.Nei M., Roychoudhury A.K. Human polymorphic genes: world distribution. N.Y.: Oxford University Press, 1988.Bowcock A.M., Ruiz-Linares A., Tomfohrde J., Minch E., Kidd J.R., Cavalli-Sforza L.L. // Nature. 1994. V. 386. P. 455-457.Watkins W.S., Bamshad M., Jorde L.B. // Hum. Mol. Genet. 1995. V. 4. P. 1485-1491.Jorde L.B., Rogers A.R., Bamshad M., Watkins W.S., Krakowiak P., Sung S., Kere J., Harpending H.C. // Proc. Natl. Acad. Sci. USA. 1997. V. 94. P. 3100-3103.Barbuhani G., Magagni A., Minch E., Cavalli-Sforza L.L. // Proc. Natl. Acad. Sci. USA. 1997. V. 94. P. 4516-4519.Stoneking M., Fontius J.J., Clifford S.L., Soodyall H., Arcot S.S., Saha N., Jenkins T., Tahir M.A., Deininger P.L., Batzer M.A. // Genome Res. 1997. V. 7. P. 1061-1071.Watkins W.S., Rogers A.R., Ostler C.T., Wooding S., Bamshad M.J., Brassington A.M., Carroll M.L., Nguyen S.V., Walker J.A., Prasad B.V., Reddy P.G., Das P.K., Batzer M.A., Jorde L.B. // Genome Res. 2003. V. 13. P. 1607-1618.Jorde L.B., Bamshad M., Rogers A.R. // BioEssays. 1998. V. 20. P. 126-136.Weir B.S., Cardon L.R., Anderson A.D., Nielsen D.M., Hill W.G. // Genome Res. 2005. V. 15. P. 1468-1476.International HapMap Consortium // Nature. 2005. V. 437. P. 1299-1320.Barreiro L.B., Laval G., Quach H., Patin E., Quintana-Murci L. // Nat. Genet. 2008. V. 40. P. 340-345.Xing J., Watkins W.S., Witherspoon D.J., Zhang Y., Guthery S.L., Thara R., Mowry B.J., Bulayeva K., Weiss R.B., Jorde L.B. // Genome Res. 2009. V. 19. P. 815-825.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., Gonzalez J.R., Gratacos 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. // Nature. 2006. V. 444. P. 444-454.Geneticheskaya struktura i nasledstvennie bolezni chuvashskoy populyatsii (Genetic Structure and Genetic Disease of the Chuvash Population) / Edited by Ginter E.K. Cheboksari: Izdatelskiy Dom “Pegas”, 2006. 232 p.Puzyrev V.P., Nazarenko L.P. Genetiko-epidemiologicheskoe issledovanie nasledstvennoy patologii v Zapadnoi Sibiri (Genetic-Epidemiological Study of Hereditary Diseases in Western Siberia). Tomsk: STT, 2000. 192 p.Salyukova O.A., Minaycheva L.I., Nazarenko L.P. // Genetika cheloveka i patologiya (Human Genetics and Pathology). 2007. I. 8. P. 272-274.Odinokova O.N., Nazarenko L.P. // Genetika cheloveka i patologiya (Human Genetics and Pathology). 2007. I. 8. P. 173-178.Jobling M.A., Hurles M.E., Tyler-Smith C. Human evolutionary genetics. Origins, peoples and diseases. N.Y.: Garland Publ., 2004. 524 p.Slatkin M., Bertorelle G. // Genetics. 2001. V. 158. P. 449-454.Wiuf C. // Genet. Res. 2001. V. 78. P. 41-47.de la Chapelle A. // Med. Genet. 1993. V. 30. P. 857-865.Peltonen L., Pekkarinen P., Aaltonen J. // Biol. Chem. Hoppe-Zeyler. 1995. V. 376. P. 697-704.Kedar-Barnes I., Rosen P. // Familial Cancer. 2004. V. 3. P. 193-199.Maksimova N.R., Nikolaeva I.A., Korotov M.N., Ikeuchi T., Onodera O., Nishizava M., Stepanova S.K., Kurtanov H.A., Suhomyasova A.L., Nogovitsina A.N., Gurinova E.E., Stepanov V.A., Puzyrev V.P. // Zhurnal nevrologii i psikhiatrii im. S.S. Koraskova (Journal of Neurology and Psychiatry named after S.S. Korsakov). 2008. V. 108. № 6. P. 52-60.Maksimova N.R. Kliniko-genealogicheskaya i molekularno-geneticheskaya kharakteristika etnospecificheskih form nasledstvennoy patologii u yakutov (Clinical and Genealogical and Molecular Genetic Characteristics of Ethno-specific Forms of Hereditary Pathology in the Yakut). Dissertation by a doctor of medical sciences. Tomsk, 2009. 436 p.Platonov F.A., Illarioshkin S.N., Kononova S.K., Gogolev M.P., Ivano-Smolenskaya I.A. // Med. Genetika (Medical Genetics). 2004. V. 5. P. 242-248.Suhomyasova A.L. Autosomno-dominantnaya miotonicheskaya distrofiya v Respublike Saha (Yakutia) (Autosomal Dominant Myotonic Dystrophy in the Republic of Sakha (Yakutia)). Abstract of a dissertation of a Ph.D. in medical sciences. Tomsk, 2005. 22 p.Banshikova E.S. Osobennosti klinicheskogo techeniya i morfofunktsionalnoe sostoyanie eritrocitov u detey s nasledstvennoy enzimopenicheskoy metgemoglobinemiey (Clinical Features and Morphological Functional State of Erythrocytes in Children with Hereditary Enzymopenic Methemoglobinemia). Abstract of a dissertation of a Ph.D. in medical sciences. Tomsk, 2002. 25 p.Voevoda M.I., Stepanov V.A., Romaschenko A.G., Maximov V.N. // Bulleten SO RAMN. 2006. № 2. P. 63-72.Wassel C.L., Pankow J.S., Peralta C.A., Choudhry S., Seldin M.F., Arnett D.K. // Cardiovasc. Genet. 2009. V. 2. P. 629-636.Karter A.J., Ferrara A., Liu J.Y., Moffet H.H., Ackerson L.M., Selby J.V. // JAMA. 2002. V. 287. P. 2519-2527.Shibata A., Whittemore A.S. // Prostate. 1997. V. 32. P. 65-72.Tielsch J.M., Sommer A., Katz J., Royall R.M., Quigley H.A., Javitt J. // JAMA. 1991. V. 266. P. 369-374.Tarver-Carr M.E., Powe N.R., Eberhardt M.S., LaVeist T.A., Kington R.S., Coresh J., Brancati F.L. // Jam. Soc. Nephrol. 2002. V. 13. P. 2363-2370.MacKay A.P., Fingerhut L.A., Duran C.R. Health, United States. With adolescent health chartbook. Hayatsville, Maryland: National Center for Health Statistics, 2000. 456 p.Ioannides J.P., Ntzani E.E., Trikalinos T.A. // Nat. Genet. 2004. V. 36. P. 1312-1318.Hindorff L.A., Sethupathy P., Junkins H.A., Ramos E.M., Mehta J.P., Collins F.S., Manolio T.A. // Proc. Natl. Acad. Sci. USA. 2009. V. 106. P. 9362-9367.Adeyemo A., Rotimi C. // Public Health Genomics. 2010. V. 12. P. 72—79.Wilkinson G.R. // N. Eng. J. Med. 2005. V. 352. P. 2211-2221.FDA (Food and Drug Administration), 2010. Table of Valid Genomic Biomarkers in the Context of Approved Drug Labels. http://www.fda.gov/Drugs/ScienceResearch/ResearchAreas/Pharmacogenetics/ucm083378.htmHolmes M.V., Shah T., Vickery C., Smeeth L., Hingorani A.D., Casas J.P. // PloS ONE. 2009. V. 4. № 12. e7960.Tate S.K., Goldstein D.B. // Nat. Genet. 2004. V. 36. P. S21-S27.Wilson J.E., Weale M., Smith A.C. // Nat. Genet. 2001. V. 29. P. 265-269.Makeeva O.A., Stepanov V.A., Puzyrev V.P., Grossman A., Goldstein D.B. // Pharmacogenetics. 2008. V. 9. P. 847-868.Levy S., Sutton G., Ng P.C., Feuk L., Halpern A.L., Walenz B.P., Axelrod N., Huang J., Kirkness E.F., Denisov G., Lin Y., MacDonald J.R., Pang A.W., Shago M., Stockwell T.B., Tsiamouri A., Bafna V., Bansal V., Kravitz S.A., Busam D.A., Beeson K.Y., McIntosh T.C., Remington K.A., Abril J.F., Gill J., Borman J., Rogers Y.H., Frazier M.E., Scherer S.W., Strausberg R.L., Venter J.C. // Plos Biol. 2007. V. 5. № 10. e254.Wheeler D.A., Srinivasan M., Egholm M., Shen Y., Chen L., McGuire A., He W., Chen Y.J., Makhijani V., Roth G.T., Gomes X., Tartaro K., Niazi F., Turcotte C.L., Irzyk G.P., Lupski J.R., Chinault C., Song X.Z., Liu Y., Yuan Y., Nazareth L., Qin X., Muzny D.M., Margulies M., Weinstock G.M., Gibbs R.A., Rothberg J.M. // Nature. 2008. V. 452. P. 872-877.Ley T. J., Mardis E.R., Ding L., Fulton B., McLellan M.D., Chen K., Dooling D., Dunford-Shore B.H., McGrath S., Hickenbotham M., Cook L., Abbott R., Larson D.E., Koboldt D.C., Pohl C., Smith S., Hawkins A., Abbott S., Locke D., Hillier L.W., Miner T., Fulton L., Magrini V., Wylie T., Glasscock J., Conyers J., Sander N., Shi X., Osborne J.R., Minx P., Gordon D., Chinwalla A., Zhao Y., Ries R.E., Payton J.E., Westervelt P., Tomasson M.H., Watson M., Baty J., Ivanovich J., Heath S., Shannon W.D., Nagarajan R., Walter M.J., Link D.C., Graubert T.A., DiPersio J.F., Wilson R.K. // Nature. 2008. V. 456. P. 66-72.Bentley D.R., Balasubramanian S., Swerdlow H.P., Smith G.P., Milton J., Brown C.G., Hall K.P., Evers D.J., Barnes C.L., Bignell H.R., Boutell J.M., Bryant J., Carter R. J., Keira Cheetham R., Cox A.J., Ellis D.J., Flatbush M.R., Gormley N.A., Humphray S.J., Irving L.J., Karbelashvili M.S., Kirk S.M., Li H., Liu X., Maisinger K.S., Murray L.J., Obradovic B., Ost T., Parkinson M.L., Pratt M.R., Rasolonjatovo I.M., Reed M.T., Rigatti R., Rodighiero C., Ross M.T., Sabot A., Sankar S.V., Scally A., Schroth G.P., Smith M.E., Smith V.P., Spiridou A., Torrance P.E., Tzonev S.S., Vermaas E.H., Walter K., Wu X., Zhang L., Alam M.D., Anastasi C., Aniebo I.C., Bailey D.M., Bancarz I.R., Banerjee S., Barbour S.G., Baybayan P.A., Benoit V.A., Benson K.F., Bevis C., Black P. J., Boodhun A., Brennan J.S., Bridgham J.A., Brown R.C., Brown A.A., Buermann D.H., Bundu A.A., Burrows J.C., Carter N.P., Castillo N., Chiara E. Catenazzi M. et al.// Nature. 2008. V. 456. P. 53-59.Wang J., Wang W., Li R., Li Y., Tian G., Goodman L., Fan W., Zhang J., Li J., Zhang J., Guo Y., Feng B., Li H., Lu Y., Fang X., Liang H., Du Z., Li D., Zhao Y., Hu Y., Yang Z., Zheng H., Hellmann I., Inouye M., Pool J., Yi X., Zhao J., Duan J., Zhou Y., Qin J., Ma L., Li G., Yang Z., Zhang G., Yang B., Yu C., Liang F., Li W., Li S., Li D., Ni P., Ruan J., Li Q., Zhu H., Liu D., Lu Z., Li N., Guo G., Zhang J., Ye J., Fang L., Hao Q., Chen Q., Liang Y., Su Y., San A., Ping C., Yang S., Chen F., Li L., Zhou K., Zheng H., Ren Y., Yang L., Gao Y., Yang G., Li Z., Feng X., Kristiansen K., Wong G.K., Nielsen R., Durbin R., Bolund L., Zhang X., Li S., Yang H., Wang J. // Nature. 2008. V. 456. P. 60-65.Ahn S.M., Kim T.H., Lee S,. Kim D., Ghang H., Kim D.S., Kim B.C., Kim S.Y., Kim W.Y., Kim C., Park D., Lee Y.S., Kim S., Reja R., Jho S., Kim C.G., Cha J.Y., Kim K.H., Lee B., Bhak J., Kim S.J. // Genome Res. 2009. V. 19. № 9. P. 1622-1629.McKernan K.J., Peckham H.E., Costa G.L., McLaughlin S.F., Fu Y., Tsung E.F., Clouser C.R., Duncan C., Ichikawa J.K., Lee C.C., Zhang Z., Ranade S.S., Dimalanta E.T., Hyland F.C., Sokolsky T.D., Zhang L., Sheridan A., Fu H., Hendrickson C.L., Li B., Kotler L., Stuart J.R., Malek J.A., Manning J.M., Antipova A.A., Perez D.S., Moore M.P., Hayashibara K.C., Lyons M.R., Beaudoin R.E., Coleman B.E., Laptewicz M.W., Sannicandro A.E., Rhodes M.D., Gottimukkala R.K., Yang S., Bafna V., Bashir A., MacBride A., Alkan C., Kidd J.M., Eichler E.E., Reese M.G., De La Vega F.M., Blanchard A.P. // Genome Res. 2009. V. 19. P. 1527-1541.Kim J.I., Ju Y.S., Park H., Kim S., Lee S., Yi J.H., Mudge J., Miller N.A., Hong D., Bell C.J., Kim H.S., Chung I.S., Lee W.C., Lee J.S., Seo S.H., Yun J.Y., Woo H.N., Lee H., Suh D., Lee S., Kim H.J., Yavartanoo M., Kwak M., Zheng Y., Lee M.K., Park H., Kim J.Y., Gokcumen O., Mills R.E., Zaranek A.W., Thakuria J., Wu X., Kim R.W., Huntley J. J., Luo S., Schroth G.P., Wu T.D., Kim H., Yang K.S., Park W.Y., Kim H., Church G.M., Lee C., Kingsmore S.F., Seo J.S. // Nature. 2009. V. 460. P. 1011-1015.Pushkarev D., Neff N., Quake S.R. // Nat. Biotechnol. 2009. V. 27. P. 847-850.Skryabin K.G., Prokhorchuk E.B., Mazur A.M., Buligigna E.S., Tsigankova S.V., Nedoluzhko A.V., Rastorguev S.M., Matveev V.B., Chekanov N.N., Goranskaya D.A., Tesluk A.B., Gruzdeva N.M., Velihov V.E., Zardize D.G., Kavalchuk M.V. // Acta Naturae. 2009. V. 1. № 3. P. 113-119.Drmanac R., Sparks A.B., Callow M.J., Halpern A.L., Burns N.L., Kermani B.G., Carnevali P., Nazarenko I., Nilsen G.B., Yeung G., Dahl F., Fernandez A., Staker B., Pant K.P., Baccash J., Borcherding A.P., Brownley A., Cedeno R., Chen L., Chernikoff D., Cheung A., Chirita R., Curson B., Ebert J.C., Hacker C.R., Hartlage R., Hauser B., Huang S., Jiang Y., Karpinchyk V., Koenig M., Kong C., Landers T., Le C., Liu J., McBride C.E., Morenzoni M., Morey R.E., Mutch K., Perazich H., Perry K., Peters B.A., Peterson J., Pethiyagoda C.L., Pothuraju K., Richter C., Rosenbaum A.M., Roy S., Shafto J., Sharanhovich U., Shannon K.W., Sheppy C.G., Sun M., Thakuria J.V., Tran A., Vu D., Zaranek A.W., Wu X., Drmanac S., Oliphant A.R., Banyai W.C., Martin B., Ballinger D.G., Church G.M., Reid C.A. // Science. 2010. V. 327. P. 78-81.Rasmussen M., Li Y., Lindgreen S., Pedersen J.S., Albrechtsen A., Moltke I., Metspalu M., Metspalu E., Kivisild T., Gupta R., Bertalan M., Nielsen K., Gilbert M.T., Wang Y., Raghavan M., Campos P.F., Kamp H.M., Wilson A.S., Gledhill A., Tridico S., Bunce M., Lorenzen E.D., Binladen J., Guo X., Zhao J., Zhang X., Zhang H., Li Z., Chen M., Orlando L., Kristiansen K., Bak M., Tommerup N., Bendixen C., Pierre T.L., Grønnow B., Meldgaard M., Andreasen C., Fedorova S.A., Osipova L.P., Higham T.F., Ramsey C.B., Hansen T.V., Nielsen F.C., Crawford M.H., Brunak S., Sicheritz-Pontén T., Villems R., Nielsen R., Krogh A., Wang J., Willerslev E. // Nature. 2010. V. 463. P. 757-762.Schuster S.C., Miller W., Ratan A., Tomsho L.P, Giardine B., Kasson L.R., Harris R.S., Petersen D.C., Zhao F., Qi J., Alkan C., Kidd J.M., Sun Y., Drautz D.I., Bouffard P., Muzny D.M., Reid J.G., Nazareth L.V., Wang Q., Burhans R., Riemer C., Wittekindt N.E., Moorjani P., Tindall E.A., Danko C.G., Teo W.S., Buboltz A.M., Zhang Z., Ma Q., Oosthuysen A., Steenkamp A.W., Oostuisen H., Venter P., Gajewski J., Zhang Y., Pugh B.F., Makova K.D., Nekrutenko A., Mardis E.R., Patterson N., Pringle T.H., Chiaromonte F., Mullikin J.C., Eichler E.E., Hardison R.C., Gibbs R.A., Harkins T.T., Hayes V.M. // Nature. 2010. V. 463. P. 943-947.Lupski J.R., Reid J.G., Gonzaga-Jauregui C., Rio Deiros D., Chen D.C., Nazareth L., Bainbridge M., Dinh H., Jing C., Wheeler D.A., McGuire A.L., Zhang F., Stankiewicz P., Halperin J.J., Yang C., Gehman C., Guo D., Irikat R.K., Tom W., Fantin N.J., Muzny D.M., Gibbs R.A. // N. Eng. J. Med. 2010. V. 362. P. 1181-1191.Roach J.C., Glusman G., Smit A.F., Huff C.D., Hubley R., Shannon P.T., Rowen L., Pant K.P., Goodman N., Bamshad M., Shendure J., Drmanac R., Jorde L.B., Hood L., Galas D.J. // Science. 2010. V. 328. P. 636-639.Pin Tong, Prendergast J.G.D., Lohan A.J., Farrington S.M., Cronin S., Friel N., Bradley D.G., Hardiman O., Evans A., Wilson J.F., Loftus B. // Genome Biology. 2010. V. 11. R91.Mardis E.R., Ding L., Dooling D.J., Larson D.E., McLellan M.D., Chen K., Koboldt D.C., Fulton R.S., Delehaunty K.D., McGrath S.D., Fulton L.A., Locke D.P., Magrini V.J., Abbott R.M., Vickery T.L., Reed J.S., Robinson J.S., Wylie T., Smith S.M., Carmichael L., Eldred J.M., Harris C.C., Walker J., Peck J.B., Du F., Dukes A.F., Sanderson G.E., Brummett A.M., Clark E., McMichael J.F., Meyer R.J., Schindler J.K., Pohl C.S., Wallis J.W., Shi X., Lin L., Schmidt H., Tang Y., Haipek C., Wiechert M.E., Ivy J.V., Kalicki J., Elliott G., Ries R.E., Payton J.E., Westervelt P., Tomasson M.H., Watson M.A., Baty J., Heath S., Shannon W.D., Nagarajan R., Link D.C., Walter M.J., Graubert T.A., DiPersio J.F., Wilson R.K., Ley T.J. // N. Engl. J. Med. 2009. V. 361. P. 1058-1066.Pleasance E.D., Cheetham R.K., Stephens P. J., McBride D.J., Humphray S.J., Greenman C.D., Varela I., Lin M.L., Ordonez G.R., Bignell G.R., Ye K., Alipaz J., Bauer M.J., Beare D., Butler A., Carter R.J., Chen L., Cox A.J., Edkins S., Kokko-Gonzales P.I., Gormley N.A., Grocock R.J., Haudenschild C.D., Hims M.M., James T., Jia M., Kingsbury Z., Leroy C., Marshall J., Menzies A., Mudie L.J., Ning Z., Royce T., Schulz-Trieglaff O.B., Spiridou A., Stebbings L.A., Szajkowski L., Teague J., Williamson D., Chin L., Ross M.T., Campbell P.J., Bentley D.R., Futreal P.A., Stratton M.R. // Nature. 2010. V. 463. P. 191-196.Pleasance E.D., Stephens P.J., O’Meara S., McBride D.J., Meynert A., Jones D., Lin M.L., Beare D., Lau K.W., Greenman C., Varela I., Nik-Zainal S., Davies H.R., Ordonez G.R., Mudie L.J., Latimer C., Edkins S., Stebbings L., Chen L., Jia M., Leroy C., Marshall J., Menzies A., Butler A., Teague J.W., Mangion J., Sun Y.A., McLaughlin S.F., Peckham H.E., Tsung E.F., Costa G.L., Lee C.C., Minna J.D., Gazdar A., Birney E., Rhodes M.D., McKernan K.J., Stratton M.R., Futreal P.A., Campbell P.J. // Nature. 2010. V. 463. P. 184-190.Shah S.P., Morin R.D., Khattra J., Prentice L., Pugh T., Burleigh A., Delaney A., Gelmon K., Guliany R., Senz J., Steidl C., Holt R.A., Jones S., Sun M., Leung G., Moore R., Severson T., Taylor G.A., Teschendorff A.E., Tse K., Turashvili G., Varhol R., Warren R.L., Watson P., Zhao Y., Caldas C., Huntsman D., Hirst M., Marra M.A., Aparicio S. // Nature. 2009. V. 461. P. 809-813.Ding L., Ellis M.J., Li S., Larson D.E., Chen K., Wallis J.W., Harris C.C., McLellan M.D., Fulton R.S., Fulton L.L., Abbott R.M., Hoog J., Dooling D.J., Koboldt D.C., Schmidt H., Kalicki J., Zhang Q., Chen L., Lin L., Wendl M.C., McMichael J.F., Magrini V.J., Cook L., McGrath S.D., Vickery T.L., Appelbaum E., Deschryver K., Davies S., Guintoli T., Lin L., Crowder R., Tao Y., Snider J.E., Smith S.M., Dukes A.F., Sanderson G.E., Pohl C.S., Delehaunty K.D., Fron-ick C.C., Pape K.A., Reed J.S., Robinson J.S., Hodges J.S., Schierding W., Dees N.D., Shen D., Locke D.P., Wiechert M.E., Eldred J.M., Peck J.B., Oberkfell B.J., Lolofie J.T., Du F., Hawkins A.E., O’Laughlin M.D., Bernard K.E., Cunningham M., Elliott G., Mason M.D., Thompson D.M., Jr., Ivanovich J.L., Goodfellow P. J., Perou C.M., Weinstock G.M., Aft R., Watson M., Ley T. J., Wilson R.K., Mardis E.R. // Nature. 2010. V. 464. P. 999-1005.Clark M.J., Homer N., O’Connor B.D., Chen Z., Eskin A., Lee H., Merriman B., Nelson S.F. // PLoS Genet. 2010. V. 6. e1000832.International Human Genome Sequencing Consortium // Nature. 2001. V. 409. P. 860-921.1000 Genomes Meeting Report: A workshop to plan a deep catalog of human genetic variation. http://www.1000genomes.org/page.phpAshley E.A., Butte A.J., Wheeler M.T., Chen R., Klein T.E., Dewey F.E., Dudley J.T., Ormond K.E., Pavlovic A., Morgan A.A., Pushkarev D., Neff N.F., Hudgins L., Gong L., Hodges L.M., Berlin D.S., Thorn C.F., Sangkuhl K., Hebert J.M., Woon M., Sagreiya H., Whaley R., Knowles J.W., Chou M.F., Thakuria J.V., Rosenbaum A.M., Zaranek A.W., Church G.M., Greely H.T., Quake S.R., Altman R.B. // Lancet. 2010. V. 375. P. 1525-1535.Cooper R.S. // Int. J. Epidemiol. 2002. V. 32. P. 23-25.Khoury M.J., McBride C.M., Schully S.D., Ioannidis J.P., Feero W.G., Janssens A.C., Gwinn M., Simons-Morton D.G., Bernhardt J.M., Cargill M., Chanock S.J., Church G.M., Coates R.J., Collins F.S., Croyle R.T., Davis B.R., Downing G.J., Duross A., Friedman S., Gail M.H., Ginsburg G.S., Green R.C., Greene M.H., Greenland P., Gulcher J.R., Hsu A., Hudson K.L., Kardia S.L., Kimmel P.L., Lauer M.S., Miller A.M., Offit K., Ransohoff D.F., Roberts J.S., Rasooly R.S., Stefansson K., Terry S.F., Teutsch S.M., Trepanier A., Wanke K.L., Witte J.S., Xu J., Centers for Disease Control and Prevention // Genetics in Medicine. 2009. V. 11. P. 559-567.Genetics of the human race // Nat. Genet. 2004. V. 36.