Functional genomics applied to cardiovascular medicine

Circulation

Volumn 124, Issue 1, 2011, Pages 87-94

  Cappola, Thomas P ^a   Margulies, Kenneth B ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

genomic study; genomics

Indexed keywords

AMINO ACID; APELIN; APELIN RECEPTOR; CLOPIDOGREL; CYTOCHROME P450 2C19; CYTOCHROME P450 2C9; DNA; HISTONE; MESSENGER RNA; TRANSCRIPTOME; WARFARIN;

AMINO ACID SEQUENCE; ARTICLE; BIOINFORMATICS; CARDIAC GRAFT REJECTION; CARDIOLOGY; CARDIOVASCULAR RISK; CORONARY ARTERY OBSTRUCTION; DNA METHYLATION; DNA SEQUENCE; DRUG METABOLISM; ELECTRONIC MEDICAL RECORD; EPIGENETICS; EXOME; FUNCTIONAL GENOMICS; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENE FUNCTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HEART ASSIST DEVICE; HEART FAILURE; HEART INFARCTION; HEART MUSCLE BIOPSY; HISTONE MODIFICATION; HUMAN; KNOWLEDGE DISCOVERY; METABOLOMICS; NONHUMAN; PHARMACOGENOMICS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEOMICS; QUANTITATIVE TRAIT LOCUS MAPPING; SCREENING; SENSITIVITY AND SPECIFICITY; SYSTEMS BIOLOGY; TECHNOLOGY; TRANSCRIPTOMICS;

BIOMEDICAL RESEARCH; CARDIOVASCULAR DISEASES; COMPUTATIONAL BIOLOGY; EPIGENOMICS; GENOMICS; HUMANS; PHARMACOGENETICS; PROTEOMICS;

EID: 79960365933     PISSN: 00097322     EISSN: 15244539     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.111.027300     Document Type: Article

References (81)

1. Vukmirovic OG, Tilghman SM. Exploring genome space. Nature. 2000; 405:820-822. (Pubitemid 30407859)
2. Feero WG, Guttmacher AE, Collins FS. Genomic medicine: an updated primer. N Eng J Med. 2010;362:2001-2011.
3. Khoury MJ. Genetics and genomics in practice: the continuum from genetic disease to genetic information in health and disease. Genet Med. 2003;5:261-268. (Pubitemid 37020858)
4. MacRae CA. Genetics primer for the general cardiologist. Circulation. 2011;123:467.
5. Guttmacher AE, Collins FS. Genomic medicine: a primer. N Eng J Med. 2002;347:1512-1520.
6. Kim L, Devereux RB, Basson CT. Impact of genetic insights into men-delian disease on cardiovascular clinical practice. Circulation. 2011;123: 544-550.
7. Hardy J, Singleton A. Genomewide association studies and human disease. N Eng J Med. 2009;360:1759-1768.
8. Musunuru K, Strong A, Frank-Kamenetsky M, Lee NE, Ahfeldt T, Sachs KV, Li X, Li H, Kuperwasser N, Ruda VM, Pirruccello JP, Muchmore B, Prokunina-Olsson L, Hall JL, Schadt EE, Morales CR, Lund-Katz S, Phillips MC, Wong J, Cantley W, Racie T, Ejebe KG, Orho-Melander M, Melander O, Koteliansky V, Fitzgerald K, Krauss RM, Cowan CA, Kathiresan S, Rader DJ. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. Nature. 2010;466:714-719.
9. Cappola TP, Matkovich SJ, Wang W, van Booven D, Li M, Wang X, Qu L, Sweitzer NK, Fang JC, Reilly MP, Hakonarson H, Nerbonne JM, Dorn GW. Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation. Proc Natl Acad Sci USA. 2011;108:2456-2461.
10. McClellan J, King MC. Genetic heterogeneity in human disease. Cell. 2010;141:210-217.
11. Ashley EA, Butte AJ, Wheeler MT, Chen R, Klein TE, Dewey FE, Dudley JT, Ormond KE, Pavlovic A, Morgan AA, Pushkarev D, Neff NF, Hudgins L, Gong L, Hodges LM, Berlin DS, Thorn CF, Sangkuhl K, Hebert JM, Woon M, Sagreiya H, Whaley R, Knowles JW, Chou MF, Thakuria JV, Rosenbaum AM, Zaranek AW, Church GM, Greely HT, Quake SR, Altman RB. Clinical assessment incorporating a personal genome. Lancet. 2010;375:1525-1535.
12. Bird A. Perceptions of epigenetics. Nature. 2007;447:396-398. (Pubitemid 46816744)
13. Ordovas JM, Smith CE. Epigenetics and cardiovascular disease. Nat Rev Cardiol. 2010;7:510-519.
14. Margueron Rl, Reinberg D. Chromatin structure and the inheritance of epigenetic information. Nat Rev Genet. 2010;11:285-296.
15. Baccarelli A, Rienstra M, Benjamin EJ. Cardiovascular epigenetics. Circ Cardiovasc Genet. 2010;3:567-573.
16. Trivedi CM, Luo Y, Yin Z, Zhang M, Zhu W, Wang T, Floss T, Goettlicher M, Noppinger PR, Wurst W, Ferrari VA, Abrams CS, Gruber PJ, Epstein JA. Hdac2 regulates the cardiac hypertrophic response by modulating Gsk3 beta activity. Nat Med. 2007;13:324-331. (Pubitemid 46376684)
17. Small EM, Frost RJ, Olson EN. MicroRNAs add a new dimension to cardiovascular disease. Circulation. 2010;121:1022-1032.
18. Dorn GW. Therapeutic potential of microRNAs in heart failure. Curr Cardiol Rep. 2010;12:209-215.
19. De Souza AI, Cardin S, Wait R, Chung YL, Vijayakumar M, Maguy A, Camm AJ, Nattel S. Proteomic and metabolomic analysis of atrial pro-fibrillatory remodelling in congestive heart failure. J Mol Cell Cardiol. 2010;49:851-863.
20. Lewis GD, Gerszten RE. Toward metabolomic signatures of cardiovascular disease. Circ Cardiovasc Genet. 2010;3:119-121.
21. Mayr M. Metabolomics: ready for the prime time? Circ Cardiovasc Genet. 2008;1:58-65.
22. Goonewardena SN, Prevette LE, Desai AA. Metabolomics and atherosclerosis. Curr Atheroscler Rep. 2010;12:267-272.
23. Kontush A, Chapman MJ. Lipidomics as a tool for the study of lipo-protein metabolism. Curr Atheroscler Rep. 2010;2:194-201.
24. Lee DS, Pencina MJ, Benjamin EJ, Wang TJ, Levy D, O'Donnell CJ, Nam BH, Larson MG, D'Agostino RB, Vasan RS. Association of parental heart failure with risk of heart failure in offspring. N Engl J Med. 2006;355:138-147. (Pubitemid 44050395)
25. Smith NL, Felix JF, Morrison AC, Demissie S, Glazer NL, Loehr LR, Cupples LA, Dehghan A, Lumley T, Rosamond WD, Lieb W, Rivadeneira F, Bis JC, Folsom AR, Benjamin E, Aulchenko YS, Hari-tunians T, Couper D, Murabito J, Wang YA, Stricker BH, Gottdiener JS, Chang PP, Wang TJ, Rice KM, Hofman A, Heckbert SR, Fox ER, O'Donnell CJ, Uitterlinden AG, Rotter JI, Willerson JT, Levy D, van Duijn CM, Psaty BM, Witteman JC, Boerwinkle E, Vasan RS. Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. Circ Cardiovasc Genet. 2010;3:256-266.
26. Vasan RS, Glazer NL, Felix JF, Lieb W, Wild PS, Felix SB, Watzinger N, Larson MG, Smith NL, Dehghan A, Grosshennig A, Schillert A, Teumer A, Schmidt R, Kathiresan S, Lumley T, Aulchenko YS, Konig IR, Zeller T, Homuth G, Struchalin M, Aragam J, Bis JC, Rivadeneira F, Erdmann J, Schnabel RB, Dorr M, Zweiker R, Lind L, Rodeheffer RJ, Greiser KH, Levy D, Haritunians T, Deckers JW, Stritzke J, Lackner KJ, Volker U, Ingelsson E, Kullo I, Haerting J, O'Donnell CJ, Heckbert SR, Stricker BH, Ziegler A, Reffelmann T, Redfield MM, Werdan K, Mitchell GF, Rice K, Arnett DK, Hofman A, Gottdiener JS, Uitterlinden AG, Meitinger T, Blettner M, Friedrich N, Wang TJ, Psaty BM, van Duijn CM, Wichmann HE, Munzel TF, Kroemer HK, Benjamin EJ, Rotter JI, Witteman JC, Schunkert H, Schmidt H, Volzke H, Blankenberg S. Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data. JAMA. 2009;302:168-178.
27. Cappola TP, Li M, He J, Ky B, Gilmore J, Qu L, Keating B, Reilly M, Kim CE, Glessner J, Frackelton E, Hakonarson H, Syed F, Hindes A, Matkovich SJ, Cresci S, Dorn GW 2nd. Common variants in HSPB7 and FRMD4B associated with advanced heart failure. Circ Cardiovasc Genet. 2010;3:147-154.
28. Stark K, Esslinger UB, Reinhard W, Petrov G, Winkler T, Komajda M, Isnard R, Charron P, Villard E, Cambien F, Tiret L, Aumont MC, Dubourg O, Trochu JN, Fauchier L, Degroote P, Richter A, Maisch B, Wichter T, Zollbrecht C, Grassl M, Schunkert H, Linsel-Nitschke P, Erdmann J, Baumert J, Illig T, Klopp N, Wichmann HE, Meisinger C, Koenig W, Lichtner P, Meitinger T, Schillert A, Konig IR, Hetzer R, Heid IM, Regitz-Zagrosek V, Hengstenberg C. Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy. PLoS Genet. 2010;6:e1001167.
29. Lanktree MB, Hassell RG, Lahiry P, Hegele RA. Phenomics: expanding the role of clinical evaluation in genomic studies. J Investig Med. 2010; 58:700-706.
30. Hagen JB. The origins of bioinformatics. Nat Rev Genet. 2000;1: 231-236.
31. Kanehisa M, Bork P. Bioinformatics in the post-sequence era. Nat Genet. 2003;33(suppl):305-310. (Pubitemid 36278840)
32. Barabasi AL, Gulbahce N, Loscalzo J. Network medicine: a network-based approach to human disease. Nat Rev Genet. 2011;12: 56-68.
33. Emilsson V, Thorleifsson G, Zhang B, Leonardson AS, Zink F, Zhu J, Carlson S, Helgason A, Walters GB, Gunnarsdottir S, Mouy M, Steinthorsdottir V, Eiriksdottir GH, Bjornsdottir G, Reynisdottir I, Gud-bjartsson D, Helgadottir A, Jonasdottir A, Jonasdottir A, Styrkarsdottir U, Gretarsdottir S, Magnusson KP, Stefansson H, Fossdal R, Kristjansson K, Gislason HG, Stefansson T, Leifsson BG, Thorsteinsdottir U, Lamb JR, Gulcher JR, Reitman ML, Kong A, Schadt EE, Stefansson K. Genetics of gene expression and its effect on disease. Nature. 2008;452:423-428. (Pubitemid 351450845)
34. Schadt EE, Molony C, Chudin E, Hao K, Yang X, Lum PY, Kasarskis A, Zhang B, Wang S, Suver C, Zhu J, Millstein J, Sieberts S, Lamb J, GuhaThakurta D, Derry J, Storey JD, Avila-Campillo I, Kruger MJ, Johnson JM, Rohl CA, van Nas A, Mehrabian M, Drake TA, Lusis AJ, Smith RC, Guengerich FP, Strom SC, Schuetz E, Rushmore TH, Ulrich R. Mapping the genetic architecture of gene expression in human liver. PLoS Biol. 2008;6:e107.
35. Schadt EE, Zhang B, Zhu J. Advances in systems biology are enhancing our understanding of disease and moving us closer to novel disease treatments. Genetica. 2009;136:259-269.
36. Petretto E, Sarwar R, Grieve I, Lu H, Kumaran MK, Muckett PJ, Mangion J, Schroen B, Benson M, Punjabi PP, Prasad SK, Pennell DJ, Kiesewetter C, Tasheva ES, Corpuz LM, Webb MD, Conrad GW, Kurtz TW, Kren V, Fischer J, Hubner N, Pinto YM, Pravenec M, Aitman TJ, Cook SA. Integrated genomic approaches implicate osteoglycin (Ogn) in the regulation of left ventricular mass. Nat Genet. 2008;40(5):546-552. (Pubitemid 351601220)
37. Petretto E, Bottolo L, Langley SR, Heinig M, McDermott-Roe C, Sarwar R, Pravenec M, Hubner N, Aitman TJ, Cook SA, Richardson S. New insights into the genetic control of gene expression using a Bayesian multi-tissue approach. PLoS Comput Biol. 2010;6:e1000737.
38. Lusis AJ, Weiss JN. Cardiovascular networks: systems-based approaches to cardiovascular disease. Circulation. 2010;121:157-170.
39. Musunuru K, Kathiresan S. Genetics of coronary artery disease. Annu Rev Genomics Hum Genet. 2010;11:91-108.
40. Paynter NP, Chasman DI, Parpé G, Buring JE, Cook NR, Miletich JP, Ridker PM. Association between a literature-based genetic risk score and cardiovascular events in women. JAMA. 2010;303:631-637.
41. Ripatti S, Tikkanen E, Orho-Melander M, Havulinna AS, Silander K, Sharma A, Guiducci C, Perola M, Jula A, Sinisalo J, Lokki M-L, Nieminen MS, Melander O, Salomaa V, Peltonen L, Kathiresan S. A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. Lancet. 2010;376:1393-1400.
42. Thanassoulis G, Vasan RS. Genetic cardiovascular risk prediction: will we get there? Circulation. 2010;122:2323-2334.
43. Ormond KE, Wheeler MT, Hudgins L, Klein TE, Butte AJ, Altman RB, Ashley EA, Greely HT. Challenges in the clinical application of whole-genome sequencing. Lancet. 2010;375:1749-1751.
44. Horwitz PA, Tsai EJ, Putt ME, Gilmore JM, Lepore JJ, Parmacek MS, Kao AC, Desai SS, Goldberg LR, Brozena SC, Jessup ML, Epstein JA, Cappola TP. Detection of cardiac allograft rejection and response to immunosuppressive therapy with peripheral blood gene expression. Circulation. 2004;110:3815-3821. (Pubitemid 40028320)
45. Deng MC, Eisen HJ, Mehra MR, Billingham M, Marboe CC, Berry G, Kobashigawa J, Johnson FL, Starling RC, Murali S, Pauly DF, Baron H, Wohlgemuth JG, Woodward RN, Klingler TM, Walther D, Lal PG, Rosenberg S, Hunt S. Noninvasive discrimination of rejection in cardiac allograft recipients using gene expression profiling. Am J Transplant. 2006;6:150-160. (Pubitemid 43382213)
46. Pham MX, Teuteberg JJ, Kfoury AG, Starling RC, Deng MC, Cappola TP, Kao A, Anderson AS, Cotts WG, Ewald GA, Baran DA, Bogaev RC, Elashoff B, Baron H, Yee J, Valantine HA. Gene-expression profiling for rejection surveillance after cardiac transplantation. N Engl J Med. 2010; 362:1890-1900.
47. Rosenberg S, Elashoff MR, Beineke P, Daniels SE, Wingrove JA, Tingley WG, Sager PT, Sehnert AJ, Yau M, Kraus WE, Newby LK, Schwartz RS, Voros S, Ellis SG, Tahirkheli N, Waksman R, McPherson J, Lansky A, Winn ME, Schork NJ, Topol EJ. Multicenter validation of the diagnostic accuracy of a blood-based gene expression test for assessing obstructive coronary artery disease in nondiabetic patients. Ann Intern Med. 2010;153:425-434.
48. Morrow DA, Braunwald E. Future of biomarkers in acute coronary syndromes: moving toward a multimarker strategy. Circulation. 2003; 108:250-252. (Pubitemid 36899010)
49. Barderas MG, Laborde CM, Posada M, de la Cuesta F, Zubiri I, Vivanco F, Alvarez-Llamas G. Metabolomic profiling for identification of novel potential biomarkers in cardiovascular diseases. J Biomed Biotechnol. 2011;2011:790132.
50. Alexander D, Lombardi R, Rodriguez G, Mitchell MM, Marian AJ. Metabolomic distinction and insights into the pathogenesis of human primary dilated cardiomyopathy. Eur J Clin Invest. 2010;41:527-538.
51. Goetz MP, Knox SK, Suman VJ, Rae JM, Safgren SL, Ames MM, Visscher DW, Reynolds C, Couch FJ, Lingle WL, Weinshilboum RM, Fritcher EG, Nibbe AM, Desta Z, Nguyen A, Flockhart DA, Perez EA, Ingle JN. The impact of cytochrome P450 2D6 metabolism in women receiving adjuvant tamoxifen. Breast Cancer Res Treat. 2007;101: 113-121. (Pubitemid 47555336)
52. Eberhard DA, Johnson BE, Amler LC, Goddard AD, Heldens SL, Herbst RS, Ince WL, Janne PA, Januario T, Johnson DH, Klein P, Miller VA, Ostland MA, Ramies DA, Sebisanovic D, Stinson JA, Zhang YR, Ses-hagiri S, Hillan KJ. Mutations in the epidermal growth factor receptor and in KRAS are predictive and prognostic indicators in patients with non-small-cell lung cancer treated with chemotherapy alone and in combination with erlotinib. J Clin Oncol. 2005;23:5900-5909.
53. Lievre A, Bachet JB, Boige V, Cayre A, Le Corre D, Buc E, Ychou M, Bouche O, Landi B, Louvet C, Andre T, Bibeau F, Diebold MD, Rougier P, Ducreux M, Tomasic G, Emile JF, Penault-Llorca F, Laurent-Puig P. KRAS mutations as an independent prognostic factor in patients with advanced colorectal cancer treated with cetuximab. J Clin Oncol. 2008; 26:374-379. (Pubitemid 351171687)
54. Di Fiore F, Blanchard F, Charbonnier F, Le Pessot F, Lamy A, Galais MP, Bastit L, Killian A, Sesboue R, Tuech JJ, Queuniet AM, Paillot B, Sabourin JC, Michot F, Michel P, Frebourg T. Clinical relevance of KRAS mutation detection in metastatic colorectal cancer treated by Cetuximab plus chemotherapy. Br J Cancer. 2007;96:1166-1169. (Pubitemid 46625066)
55. Hoskins JM, Goldberg RM, Qu P, Ibrahim JG, McLeod HL. UGT1A1*28 genotype and irinotecan-induced neutropenia: dose matters. J Natl Cancer Inst. 2007;99:1290-1295. (Pubitemid 47394168)
56. Ellis KJ, Stouffer GA, McLeod HL, Lee CR. Clopidogrel pharmacog-enomics and risk of inadequate platelet inhibition: US FDA recommendations. Pharmacogenomics. 2009;10:1799-1817.
57. Mialet Perez J, Rathz DA, Petrashevskaya NN, Hahn HS, Wagoner LE, Schwartz A, Dorn GW, Liggett SB. Beta 1-adrenergic receptor polymorphisms confer differential function and predisposition to heart failure. Nat Med. 2003;9:1300-1305. (Pubitemid 37279854)
58. Liggett SB, Mialet-Perez J, Thaneemit-Chen S, Weber SA, Greene SM, Hodne D, Nelson B, Morrison J, Domanski MJ, Wagoner LE, Abraham WT, Anderson JL, Carlquist JF, Krause-Steinrauf HJ, Lazzeroni LC, Port JD, Lavori PW, Bristow MR. A polymorphism within a conserved beta(1)-adrenergic receptor motif alters cardiac function and beta-blocker response in human heart failure. PNAS. 2006;103:11288-11293. (Pubitemid 44156511)
59. McNamara DM. Emerging role of pharmacogenomics in heart failure. Curr Opin Cardiol. 2008;23:261-268. (Pubitemid 351489330)
60. Barber MJ, Mangravite LM, Hyde CL, Chasman DI, Smith JD, McCarty CA, Li X, Wilke RA, Rieder MJ, Williams PT, Ridker PM, Chatterjee A, Rotter JI, Nickerson DA, Stephens M, Krauss RM. Genome-wide association of lipid-lowering response to statins in combined study populations. PloS One. 2010;5:e9763.
61. Bailey KM, Romaine SP, Jackson BM, Farrin AJ, Efthymiou M, Barth JH, Copeland J, McCormack T, Whitehead A, Flather MD, Samani NJ, Nixon J, Hall AS, Balmforth AJ. Hepatic metabolism and transporter gene variants enhance response to rosuvastatin in patients with acute myocardial infarction: the GEOSTAT-1 Study. Circ Cardiovasc Genet. 2010;3:276-285.
62. Hubacek JA, Adamkova V, Prusikova M, Snejdrlova M, Hirschfeldova K, Lanska V, Ceska R, Vrablik M. Impact of apolipoprotein A5 variants on statin treatment efficacy. Pharmacogenomics. 2009;10:945-950.
63. Ansell JE. Optimizing the efficacy and safety of oral anticoagulant therapy: high-quality dose management, anticoagulation clinics, and patient self-management. Semin Vasc Med. 2003;3:261-270.
64. Higashi MK, Veenstra DL, Kondo LM, Wittkowsky AK, Srinouan-prachanh SL, Farin FM, Rettie AE. Association between CYP2C9 genetic variants and anticoagulation-related outcomes during warfarin therapy. JAMA. 2002;287:1690-1698. (Pubitemid 34289221)
65. Rieder MJ, Reiner AP, Gage BF, Nickerson DA, Eby CS, McLeod HL, Blough DK, Thummel KE, Veenstra DL, Rettie AE. Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N Eng J Med. 2005;352:2285-2293. (Pubitemid 40740552)
66. Sconce EA, Khan TI, Wynne HA, Avery P, Monkhouse L, King BP, Wood P, Kesteven P, Daly AK, Kamali F. The impact of CYP2C9 and VKORC1 genetic polymorphism and patient characteristics upon warfarin dose requirements: proposal for a new dosing regimen. Blood. 2005;106:2329-2333. (Pubitemid 41510803)
67. Anderson JL, Horne BD, Stevens SM, Grove AS, Barton S, Nicholas ZP, Kahn SF, May HT, Samuelson KM, Muhlestein JB, Carlquist JF. Randomized trial of genotype-guided versus standard warfarin dosing in patients initiating oral anticoagulation. Circulation. 2007;116: 2563-2570. (Pubitemid 350179221)
68. Caraco Y, Blotnick S, Muszkat M. CYP2C9 genotype-guided warfarin prescribing enhances the efficacy and safety of anticoagulation: a prospective randomized controlled study. Clin Pharmacol Ther. 2008;83: 460-470. (Pubitemid 351272635)
69. Chen MM, Ashley EA, Deng DX, Tsalenko A, Deng A, Tabibiazar R, Ben-Dor A, Fenster B, Yang E, King JY, Fowler M, Robbins R, Johnson FL, Bruhn L, McDonagh T, Dargie H, Yakhini Z, Tsao PS, Quertermous T. Novel role for the potent endogenous inotrope apelin in human cardiac dysfunction. Circulation. 2003;108:1432-1439. (Pubitemid 37176447)
70. Japp AG, Cruden NL, Barnes G, van Gemeren N, Mathews J, Adamson J, Johnston NR, Denvir MA, Megson IL, Flapan AD, Newby DE. Acute cardiovascular effects of apelin in humans: potential role in patients with chronic heart failure. Circulation. 2010;121:1818-1827.
71. Sarwar R, Cook SA. Genomic analysis of left ventricular remodeling. Circulation. 2009;120:437-444.
72. Chen Y, Zhu J, Lum PY, Yang X, Pinto S, MacNeil DJ, Zhang C, Lamb J, Edwards S, Sieberts SK, Leonardson A, Castellini LW, Wang S, Champy MF, Zhang B, Emilsson V, Doss S, Ghazalpour A, Horvath S, Drake TA, Lusis AJ, Schadt EE. Variations in DNA elucidate molecular networks that cause disease. Nature. 2008;452:429-435. (Pubitemid 351450844)
73. Zhu J, Wiener MC, Zhang C, Fridman A, Minch E, Lum PY, Sachs JR, Schadt EE. Increasing the power to detect causal associations by combining genotypic and expression data in segregating populations. PLoS Comput Biol. 2007;3:e69.
74. The human genome at ten. Nature. 2010;464:649-650.
75. Wade NA. A decade later, genetic map yields few new cures. The New York Times. June 12, 2010:A1.
76. Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N, Huang J, Kirkness EF, Denisov G, Lin Y, MacDonald JR, Pang AW, Shago M, Stockwell TB, Tsiamouri A, Bafna V, Bansal V, Kravitz SA, Busam DA, Beeson KY, McIntosh TC, Remington KA, Abril JF, Gill J, Borman J, Rogers YH, Frazier ME, Scherer SW, Strausberg RL, Venter JC. The diploid genome sequence of an individual human. PLoS Biol. 2007;5:e254.
77. Jackson L, Pyeritz RE. Molecular technologies open new clinical genetic vistas. Sci Transl Med. 2011;3:65ps2.
78. Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med. 2011;3:65ra4.
79. Musunuru K, Pirruccello JP, Do R, Peloso GM, Guiducci C, Sougnez C, Garimella KV, Fisher S, Abreu J, Barry AJ, Fennell T, Banks E, Ambrogio L, Cibulskis K, Kernytsky A, Gonzalez E, Rudzicz N, Engert JC, DePristo MA, Daly MJ, Cohen JC, Hobbs HH, Altshuler D, Schonfeld G, Gabriel SB, Yue P, Kathiresan S. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Eng J Med. 2010;363:2220-2227.
80. Wilke RA, Xu H, Denny JC, Roden DM, Krauss RM, McCarty CA, Davis RL, Skaar T, Lamba J, Savova G. The emerging role of electronic medical records in pharmacogenomics. Clin Pharmacol Ther. 2011;89: 379-386.
81. Relling MV, Klein TE. CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network. Clin Pharmacol Ther. 2011;89:387-391.