XDistilling pathophysiology from complex disease genetics

Cell

Volumn 155, Issue 1, 2013, Pages 21-

  Chakravarti, Aravinda ^a   Clark, Andrew G ^b   Mootha, Vamsi K ^c  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Department of Obstetrics Gynecology   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DROSOPHILA; GENE; GENETIC ASSOCIATION; GENETIC COMPLEMENTATION; GENETIC DISORDER; GENETIC VARIABILITY; HUMAN; INHERITANCE; NONHUMAN; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

EID: 84884892198     PISSN: 00928674     EISSN: 10974172     Source Type: Journal    
DOI: 10.1016/j.cell.2013.09.001     Document Type: Note

References (36)

1. G.R. Abecasis, A. Auton, L.D. Brooks, M.A. DePristo, R.M. Durbin, R.E. Handsaker, H.M. Kang, G.T. Marth, G.A. McVean 1000 Genomes Project Consortium An integrated map of genetic variation from 1,092 human genomes Nature 491 2012 56 65
2. B. Alberts, A. Johnson, J. Lewis, M. Raff, K. Robert, and P. Walter Molecular Biology of the Cell Fifth Edition 2007 Garland Science New York
3. E. Altenburg, and H.J. Muller The genetic basis of truncate wing,-an inconstant and modifiable character in Drosophila Genetics 5 1920 1 59
4. B.S. Brooke, J.P. Habashi, D.P. Judge, N. Patel, B. Loeys, and H.C. Dietz 3rd Angiotensin II blockade and aortic-root dilation in Marfan's syndrome N. Engl. J. Med. 358 2008 2787 2795
5. M.S. Brown, and J.L. Goldstein Koch's postulates for cholesterol Cell 71 1992 187 188
6. A. Chakravarti To a future of genetic medicine Nature 409 2001 822 823
7. B.L. Chin, O. Ryan, F. Lewitter, C. Boone, and G.R. Fink Genetic variation in Saccharomyces cerevisiae: circuit diversification in a signal transduction network Genetics 192 2012 1523 1532
8. M. Costanzo, A. Baryshnikova, J. Bellay, Y. Kim, E.D. Spear, C.S. Sevier, H. Ding, J.L. Koh, K. Toufighi, and S. Mostafavi The genetic landscape of a cell Science 327 2010 425 431
9. J. Dutkowski, M. Kramer, M.A. Surma, R. Balakrishnan, J.M. Cherry, N.J. Krogan, and T. Ideker A gene ontology inferred from molecular networks Nat. Biotechnol. 31 2013 38 45
10. E.S. Emison, M. Garcia-Barcelo, E.A. Grice, F. Lantieri, J. Amiel, G. Burzynski, R.M. Fernandez, L. Hao, C. Kashuk, and K. West Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability Am. J. Hum. Genet. 87 2010 60 74
11. S. Falkow Molecular Koch's postulates applied to microbial pathogenicity Rev. Infect. Dis. 10 Suppl 2 1988 S274 S276
12. S. Falkow Molecular Koch's postulates applied to bacterial pathogenicity - a personal recollection 15 years later Nat. Rev. Microbiol. 2 2004 67 72
13. A.F. Farago, E.L. Snyder, and T. Jacks SnapShot: Lung cancer models Cell 149 2012 246-246, e1
14. D.B. Graham, and R.J. Xavier From genetics of inflammatory bowel disease towards mechanistic insights Trends Immunol. 34 2013 371 378
15. L. Groop, and F. Pociot Genetics of diabetes - Are we missing the genes or the disease? Mol. Cell. Endocrinol. 2013
16. A.C. Guyton, T.G. Coleman, and H.J. Granger Circulation: overall regulation Annu. Rev. Physiol. 34 1972 13 46
17. J.L. Hartman 4th, B. Garvik, and L. Hartwell Principles for the buffering of genetic variation Science 291 2001 1001 1004
18. L.A. Hindorff, P. Sethupathy, H.A. Junkins, E.M. Ramos, J.P. Mehta, F.S. Collins, and T.A. Manolio Potential etiologic and functional implications of genome-wide association loci for human diseases and traits Proc. Natl. Acad. Sci. USA 106 2009 9362 9367
19. G.R. Ilsley, J. Fisher, R. Apweiler, A.H. Depace, and N.M. Luscombe Cellular resolution models for even skipped regulation in the entire Drosophila embryo Elife 2 2013 e00522
20. L. Jostins, S. Ripke, R.K. Weersma, R.H. Duerr, D.P. McGovern, K.Y. Hui, J.C. Lee, L.P. Schumm, Y. Sharma, C.A. Anderson International IBD Genetics Consortium (IIBDGC) Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease Nature 491 2012 119 124
21. I.S. Kohane, D.R. Masys, and R.B. Altman The incidentalome: a threat to genomic medicine JAMA 296 2006 212 215
22. A.C. Ludolph, J. Brettschneider, and J.H. Weishaupt Amyotrophic lateral sclerosis Curr. Opin. Neurol. 25 2012 530 535
23. D.G. MacArthur, S. Balasubramanian, A. Frankish, N. Huang, J. Morris, K. Walter, L. Jostins, L. Habegger, J.K. Pickrell, S.B. Montgomery 1000 Genomes Project Consortium A systematic survey of loss-of-function variants in human protein-coding genes Science 335 2012 823 828
24. A.S. McCallion, E.S. Emison, C.S. Kashuk, R.T. Bush, M. Kenton, M.M. Carrasquillo, K.W. Jones, G.C. Kennedy, M.E. Portnoy, E.D. Green, and A. Chakravarti Genomic variation in multigenic traits: Hirschsprung disease Cold Spring Harb. Symp. Quant. Biol. 68 2003 373 381
25. R.T. Moon, A.D. Kohn, G.V. De Ferrari, and A. Kaykas WNT and beta-catenin signalling: diseases and therapies Nat. Rev. Genet. 5 2004 691 701
26. K. Musunuru, A. Strong, M. Frank-Kamenetsky, N.E. Lee, T. Ahfeldt, K.V. Sachs, X. Li, H. Li, N. Kuperwasser, and V.M. Ruda From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus Nature 466 2010 714 719
27. A.S. Plump, J.D. Smith, T. Hayek, K. Aalto-Setälä, A. Walsh, J.G. Verstuyft, E.M. Rubin, and J.L. Breslow Severe hypercholesterolemia and atherosclerosis in apolipoprotein E-deficient mice created by homologous recombination in ES cells Cell 71 1992 343 353
28. W.B. Provine The Origins of Theoretical Population Genetics 1971 The University of Chicago Press Chicago
29. A. Raj, S.A. Rifkin, E. Andersen, and A. van Oudenaarden Variability in gene expression underlies incomplete penetrance Nature 463 2010 913 918
30. D.B. Sparrow, G. Chapman, A.J. Smith, M.Z. Mattar, J.A. Major, V.C. O'Reilly, Y. Saga, E.H. Zackai, J.P. Dormans, and B.A. Alman A mechanism for gene-environment interaction in the etiology of congenital scoliosis Cell 149 2012 295 306
31. B. Vogelstein, N. Papadopoulos, V.E. Velculescu, S. Zhou, L.A. Diaz Jr., and K.W. Kinzler Cancer genome landscapes Science 339 2013 1546 1558
32. H. Wang, H. Yang, C.S. Shivalila, M.M. Dawlaty, A.W. Cheng, F. Zhang, and R. Jaenisch One-step generation of mice carrying mutations in multiple genes by CRISPR/Cas-mediated genome engineering Cell 153 2013 910 918
33. J.D. Watson, T.A. Baker, S.P. Bell, A. Gann, M. Levine, and R. Losick Molecular Biology of the Gene Seventh Edition 2007 CSHL Press & Benjamin Cummings San Francisco
34. J. Yang, T.A. Manolio, L.R. Pasquale, E. Boerwinkle, N. Caporaso, J.M. Cunningham, M. de Andrade, B. Feenstra, E. Feingold, and M.G. Hayes Genome partitioning of genetic variation for complex traits using common SNPs Nat. Genet. 43 2011 519 525
35. N. Yosef, A.K. Shalek, J.T. Gaublomme, H. Jin, Y. Lee, A. Awasthi, C. Wu, K. Karwacz, S. Xiao, and M. Jorgolli Dynamic regulatory network controlling TH17 cell differentiation Nature 496 2013 461 468
36. K.E. Zerba, R.E. Ferrell, and C.F. Sing Genotype-environment interaction: apolipoprotein E (ApoE) gene effects and age as an index of time and spatial context in the human Genetics 143 1996 463 478