Genome Medicine: Past, present and future

Genome Medicine

Volumn 3, Issue 1, 2011, Pages

  Auffray, Charles ^a   Caulfield, Timothy ^b   Khoury, Muin J ^c   Lupski, James R ^d,e   Schwab, Matthias ^f,g   Veenstra, Timothy ^h  

^a CNRS Institute of Biological Sciences   (France)

^b UNIVERSITY OF ALBERTA   (Canada)

^c NATIONAL CENTER ON BIRTH DEFECTS AND DEVELOPMENTAL DISABILITIES   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e TEXAS CHILDREN S HOSPITAL   (United States)

^f DR MARGARETE FISCHER BOSCH INSTITUTE OF CLINICAL PHARMACOLOGY   (Germany)

^g UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^h NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; GENOME; HUMAN; MEDICAL GENETICS; MEDICAL RESEARCH; MEDICAL TECHNOLOGY; PERSONALIZED MEDICINE; PRIORITY JOURNAL; PUBLIC OPINION;

EID: 79251629764     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/gm220     Document Type: Article

References (32)

1. Auffray C, Chen Z, Hood L. Systems medicine: the future of medical genomics and healthcare. Genome Med 2009, 1:2.
2. Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas D. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 2010, 328:636-639.
3. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Exome sequencing identifies the cause of a Mendelian disorder. Nat Genet 2010, 42:30-36.
4. Baranzini SE, Mudge J, van Velkinburgh JC, Khankhanian P, Khrebtukova I, Miller NA, Zhang L, Farmer AD, Bell CJ, Kim RW, May GD, Woodward JE, Caillier SJ, McElroy JP, Gomez R, Pando MJ, Clendenen LE, Ganusova EE, Schilkey FD, Ramaraj T, Khan OA, Huntley JJ, Luo S, Kwok PY, Wu TD, Schroth GP, Oksenberg JR, Hauser SL, Kingsmore SF. Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis. Nature 2010, 464:1351-1356.
5. Mardis E. The $1,000 genome, the $100,000 analysis?. Genome Med 2010, 2:84.
6. Stein LD. The case for cloud computing in genome informatics. Genome Biol 2010, 11:207.
7. Dudley JT, Pouliot Y, Chen R, Morgan AA, Butte AJ. Translational bioinformatics in the cloud: an affordable alternative. Genome Med 2010, 2:51.
8. Clermont G, Auffray C, Moreau Y, Rocke DM, Dalevi D, Dubhashi D, Marshall DR, Raasch P, Dehne F, Provero P, Tegner J, Aronow BJ, Langston MA, Benson M. Bridging the gap between systems biology and medicine. Genome Med 2009, 1:88.
9. Murphy J, Scott J, Kaufman D, Geller G, LeRoy L, Hudson K. Public perspectives on informed consent for biobanking. Am J Public Health 2009, 99:2128-2134.
10. Ludman EJ, Fullerton SM, Spangler L, Trinidad SB, Fujii MM, Jarvik GP, Larson EB, Burke W. Glad you asked: participants' opinions of re-consent for dbGap data submission. J Empir Res Hum Res Ethics 2010, 5:9-16.
11. Marteau TM, French DP, Griffin SJ, Prevost AT, Sutton S, Watkinson C, Attwood S, Hollands GJ. Effects of communicating DNA-based disease risk estimates on risk-reducing behaviours. Cochrane Database Syst Rev 2010, 10:CD007275.
12. McBride CM, Koehly LM, Sanderson SC, Kaphingst KA. The behavioral response to personalized genetic information: will genetic risk profiles motivate individuals and families to choose more healthful behaviors?. Annu Rev Public Health 2010, 31:89-103.
13. Khoury MJ. Dealing with the evidence dilemma in genomic medicine. Clin Pharmacol Ther 2010, 87:635-638.
14. Khoury MJ, McBride C, Schully SD. The scientific foundation for personal genomics: recommendations from an NIH-CDC multidisciplinary workshop. Genet Med 2009, 11:559-567.
15. Khoury MJ, Gwinn M, Ioannidis JP. The emergence of translational epidemiology: from scientific discoveries to population health impact. Am J Epidemiol 2010, 172:517-524.
16. Schully SS, Benedicto C, Wang SS, Gillanders E, Khoury MJ. Translational research in cancer genomics: the road less travelled. Public Health Genomics 2011, 14:1-8.
17. Khoury MJ, Feero WG, Reyes M, Citrin T, Freedman A, Leonard D, Burke W, Coates R, Croyle RT, Edwards K, Kardia S, McBride C, Manolio T, Randhawa G, Rasooly R, St Pierre J, Terry S, . GAPPNet Planning Group The genomic applications in practice and prevention network. Genet Med 11:488-494. GAPPNet Planning Group.
18. Genomic Applications in Practice and Prevention Network (GAPPNet™). , http://www.cdc.gov/genomics/translation/GAPPNet/index.htm/
19. Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song XZ, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM. The complete genome of an individual by massively parallel DNA sequencing. Nature 2008, 452:872-876.
20. Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J, Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME. Origins and functional impact of copy number variation in the human genome. Nature 2010, 464:704-712.
21. Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 2010, 362:1181-1191.
22. Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet 2010, 87:418-423.
23. Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet 2010, 42:483-485.
24. Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010, 42:790-793.
25. Worthey EA, Mayer AN, Syverson GD, Helbing D, Bonacci BB, Decker B, Serpe JM, Dasu T, Tschannen MR, Veith RL, Basehore MJ, Broeckel U, Tomita-Mitchell A, Arca MJ, Casper JT, Margolis DA, Bick DP, Hessner MJ, Routes JM, Verbsky JW, Jacob HJ, Dimmock DP. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med 2011,
26. Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA. A de novo paradigm for mental retardation. Nat Genet 2010, 42:1109-1112.
27. Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, et al. Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat 2010, 31:1326-1342.
28. Kirchheiner J, Schwab M. Heterogeneity of drug responses and individualization of therapy (Chapter 16). Pharmacology and Therapeutics. Principles to Practice 2008, 225-238. Philadelphia: Elsevier, Waldman SA, Terzic A.
29. Pirmohamed M. Acceptance of biomarker-based tests for application in clinical practice: criteria and obstacles. Clin Pharmacol Ther 2010, 88:862-866.
30. Makawita S, Diamandis EP. The bottleneck in the cancer biomarker pipeline and protein quantificatioin through mass spectrometry-based approaches: current strategies for candidate verification. Clin Chem 2010, 56:212-220.
31. Umar A, Kang H, Timmermans AM, Look MP, Meijer-van Gelder ME, den Bakker MA, Jaitly N, Martens JW, Luider TM, Foekens JA, Pasa-Tolić L. Identification of a putative protein profile associated with tamoxifen therapy resistance in breast cancer. Mol Cell Proteomics 2009, 8:1278-1294.
32. Blonder J, Veenstra TD. Clinical proteomic applications of formalin-fixed paraffin-embedded tissues. Clin Lab Med 2009, 29:101-113.