Comment on "The predictive capacity of personal genome sequencing"

Science Translational Medicine

Volumn 4, Issue 135, 2012, Pages

  Topol, Eric J ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACCURACY; ARTICLE; AUTISM; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; EXOME; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOME ANALYSIS; HERITABILITY; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MATHEMATICAL MODEL; MONOZYGOTIC TWINS; MORBID OBESITY; NON INSULIN DEPENDENT DIABETES MELLITUS; PREDICTIVE VALUE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; FEMALE; HUMAN GENOME; MALE; METHODOLOGY; NOTE; PERSONALIZED MEDICINE;

FEMALE; GENOME, HUMAN; HUMANS; INDIVIDUALIZED MEDICINE; MALE;

EID: 84861476735     PISSN: 19466234     EISSN: 19466242     Source Type: Journal    
DOI: 10.1126/scitranslmed.3004126     Document Type: Article

References (9)

1. G. Kolata, "Study says DNA's power to predict illness is limited," New York Times, 2 April 2012, p. A1.
2. N. J. Roberts, J. T. Vogelstein, G. Parmigiani, K. W. Kinzler, B. Vogelstein, V. E. Velculescu, The predictive capacity of personal genome sequencing. Sci. Transl. Med. 133, 133ra58 (2012).
3. http://www.genome.gov/GWAstudies/ [accessed 7 April 2012].
4. O. Zuk, E. Hechter, S. R. Sunyaev, E. S. Lander, The mystery of missing heritability: Genetic interactions create phantom heritability. Proc. Natl. Acad. Sci. U.S.A. 109, 1193-1198 (2012).
5. S. J. Sanders, M. T. Murtha, A. R. Gupta, J. D. Murdoch, M. J. Raubeson, A. J. Willsey, A. G. Ercan-Sencicek, N. M. DiLullo, N. N. Parikshak, J. L. Stein, M. F. Walker, G. T. Ober, N. A. Teran, Y. Song, P. El-Fishawy, R. C. Murtha, M. Choi, J. D. Overton, R. D. Bjornson, N. J. Carriero, K. A. Meyer, K. Bilguvar, S. M. Mane, N. Sestan, R. P. Lifton, M. Günel, K. Roeder, D. H. Geschwind, B. Devlin, M. W. State, De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485, 237-241 (2012).
6. B. J. O'Roak, L. Vives, S. Girirajan, E. Karakoc, N. Krumm, B. P. Coe, R. Levy, A. Ko, C. Lee, J. D. Smith, E. H. Turner, I. B. Stanaway, B. Vernot, M. Malig, C. Baker, B. Reilly, J. M. Akey, E. Borenstein, M. J. Rieder, D. A. Nickerson, R. Bernier, J. Shendure, E. E. Eichler, Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485, 246-250 (2012).
7. B. M. Neale, Y. Kou, L. Liu, A. Ma'ayan, K. E. Samocha, A. Sabo, C. F. Lin, C. Stevens, L. S. Wang, V. Makarov, P. Polak, S. Yoon, J. Maguire, E. L. Crawford, N. G. Campbell, E. T. Geller, O. Valladares, C. Schafer, H. Liu, T. Zhao, G. Cai, J. Lihm, R. Dannenfelser, O. Jabado, Z. Peralta, U. Nagaswamy, D. Muzny, J. G. Reid, I. Newsham, Y. Wu, L. Lewis, Y. Han, B. F. Voight, E. Lim, E. Rossin, A. Kirby, J. Flannick, M. Fromer, K. Shakir, T. Fennell, K. Garimella, E. Banks, R. Poplin, S. Gabriel, M. Depristo, J. R. Wimbish, B. E. Boone, S. E. Levy, C. Betancur, S. Sunyaev, E. Boerwinkle, J. D. Buxbaum, E. H. Cook, B. Devlin, R. A. Gibbs, K. Roeder, G. D. Schellenberg, J. S. Sutcliffe, M. J. Daly, Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485, 242-245 (2012).
8. E. Topol, The Creative Destruction of Medicine (Basic Books, New York, 2012), p. 102.
9. R. Chen, G. I. Mias, J. Li-Pook-Than, L. Jiang, H. Y. Lam, R. Chen, E. Miriami, K. J. Karczewski, M. Hariharan, F. E. Dewey, Y. Cheng, M. J. Clark, H. Im, L. Habegger, S. Balasubramanian, M. O'Huallachain, J. T. Dudley, S. Hillenmeyer, R. Haraksingh, D. Sharon, G. Euskirchen, P. Lacroute, K. Bettinger, A. P. Boyle, M. Kasowski, F. Grubert, S. Seki, M. Garcia, M. Whirl-Carrillo, M. Gallardo, M. A. Blasco, P. L. Greenberg, P. Snyder, T. E. Klein, R. B. Altman, A. J. Butte, E. A. Ashley, M. Gerstein, K. C. Nadeau, H. Tang, M. Snyder, Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell 148, 1293-1307 (2012).