文献リスト

1）Sanger F, Nicklen S, Coulson AR. DNA sequen­cing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977; 74: 5463-7

2）Schuster SC. Next-generation sequencing trans­forms today’s biology. Nat Methods. 2008; 5: 16-8

3）Illumina. Illumina introduces the hiseq 2500. 2012

4）Davey JW, Hohenlohe PA, Etter PD, et al. Genome-wide genetic marker discovery and geno­typing using next-generation sequencing. Nat Rev Genet. 2011; 12: 499-510

5）Stein LD. The case for cloud computing in geno­me informatics. Genome Biol. 2010; 11: 207

6）National Human Genome Research Institute. NHGRI seeks next generation of sequencing technologies. New grants support development of faster, cheaper DNA sequencing. 2004

7）Qiu W, Baccarelli A, Carey VJ, et al. Variable DNA methylation is associated with chronic obs­tru­ctive pulmonary disease and lung function. Am J Respir Crit Care Med. 2012; 185: 373-81

8）Meaburn E, Schulz R. Next generation sequencing in epigenetics: Insights and challen­ges. Semin Cell Dev Biol. 2012; 23: 192-9

9）Wadelius M, Alfirevic A. Pharmacogenomics and personalized medicine: The plunge into next-gene­ration sequencing. Genome Med. 2011; 3: 78

10）Ng SB, Turner EH, Robertson PD, et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature. 2009; 461: 272-6

11）Ng SB, Buckingham KJ, Lee C, et al. Exome sequ­en­cing identifies the cause of a mendelian disor­der. Nat Genet. 2010; 42: 30-5

12）Santen GW, Aten E, Sun Y, et al. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet. 2012; 44: 379-80

13）Fiskerstrand T, Arshad N, Haukanes BI, et al. Familial diarrhea syndrome caused by an activating GUCY2C mutation. N Engl J Med. 2012; 366: 1586-95

14）Lin Z, Chen Q, Lee M, et al. Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. Am J Hum Genet. 2012; 90: 558-64

15）Srour M, Schwartzentruber J, Hamdan FF, et al. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. Am J Hum Genet. 2012; 90: 693-700

16）Schossig A, Wolf NI, Fischer C, et al. Mutations in ROGDI cause Kohlschutter-Tonz syndrome. Am J Hum Genet. 2012; 90: 701-7

17）Cirulli ET, Goldstein DB. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet. 2010; 11: 415-25

18）Rivas MA, Beaudoin M, Gardet A, et al. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet. 2011; 43: 1066-73

19）Molenaar JJ, Koster J, Zwijnenburg DA, et al. Sequencing of neuroblastoma identifies chromo­thripsis and defects in neuritogenesis genes. Nature. 2012; 483: 589-93

20）1000 Genome Project Consortium. A map of human genome variation from popula­tion-scale sequencing. Nature. 2010; 467: 1061-73

21）Kohno T, Ichikawa H, Totoki Y, et al. KIF5B-RET fusions in lung adenocarcinoma. Nat Med. 2012; 18: 375-7

22）Meyerson M, Gabriel S, Getz G. Advances in understanding cancer genomes through second-generation sequencing. Nat Rev Genet. 2010; 11: 685-96

23）Lipson D, Capelletti M, Yelensky R, et al. Identifi­cation of new ALK and RET gene fusions from colo­rectal and lung cancer biopsies. Nat Med. 2012; 18: 382-4

24）Takeuchi K, Soda M, Togashi Y, et al. RET, ROS1 and ALK fusions in lung cancer. Nat Med. 2012; 18: 378-81

25）独立行政法人科学技術振興機構 研究開発戦略センター. ライフサイエンス分野　科学技術・研究開発の国際比較2011年版 2011

26）水島-菅野順子，菅野純夫. 次世代シークエンサーの医療への応用と課題. モダンメディア. 2011; 57: 225-9

27）Life Technologies社.　プレスリリース． . 2011

28）Pao W, Hutchinson KE. Chipping away at the lung cancer genome. Nat Med. 2012; 18: 349-51

29）Gerlinger M, Rowan AJ, Horswell S, et al. Intra­tumor heterogeneity and branched evolution re­ve­aled by multiregion sequencing. N Engl J Med. 2012; 366: 883-92

30）Weinstein JN. Drug discovery: Cell lines battle cancer. Nature. 2012; 483: 544-5

31）Barretina J, Caponigro G, Stransky N, et al. The cancer cell line encyclopedia enables predictive modelling of anticancer drug sensitivity. Nature. 2012; 483: 603-7

32）Garnett MJ, Edelman EJ, Heidorn SJ, et al. Systematic identification of genomic markers of drug sensitivity in cancer cells. Nature. 2012; 483: 570-5

33）Weinstein JN. ‘Omic’ and hypothesis-driven re­search in the molecular pharmacology of cancer. Curr Opin Pharmacol. 2002; 2: 361-5

34）Sos ML, Michel K, Zander T, et al. Predicting drug susceptibility of non-small cell lung cancers based on genetic lesions. J Clin Invest. 2009; 119: 1727-40

35）Lamb J, Crawford ED, Peck D, et al. The connec­ti­vity map: Using gene-expression signatures to connect small molecules, genes, and disease. Science. 2006; 313: 1929-35

36）Cancer Genome Atlas Research Network. Com­prehensive genomic characterization defines human glioblastoma genes and core pathways. Nature. 2008; 455: 1061-8

37）Cancer Genome Atlas Research Network. Inte­grated genomic analyses of ovarian carci­noma. Nature. 2011; 474: 609-15

38）Bisgaard H, Hermansen MN, Buchvald F, et al. Childhood asthma after bacterial colonization of the airway in neonates. N Engl J Med. 2007; 357: 1487-95

39）Hilty M, Burke C, Pedro H, et al. Disordered micro­bial communities in asthmatic airways. PLoS One. 2010; 5: e8578

40）Han MK, Huang YJ, Lipuma JJ, et al. Significance of the microbiome in obstructive lung disease. Thorax. 2012; 67: 456-63

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