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Volumn 11, Issue 10, 2010, Pages 685-696

Advances in understanding cancer genomes through second-generation sequencing

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TRANSCRIPTOME;

EID: 77956838065     PISSN: 14710056     EISSN: 14710064     Source Type: Journal    
DOI: 10.1038/nrg2841     Document Type: Review
Times cited : (953)

References (120)
  • 1
    • 55549089660 scopus 로고    scopus 로고
    • Accurate whole human genome sequencing using reversible terminator chemistry
    • Bentley, D. R., et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456, 53-59 (2008).
    • (2008) Nature , vol.456 , pp. 53-59
    • Bentley, D.R.1
  • 2
    • 74949138753 scopus 로고    scopus 로고
    • Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays
    • Drmanac, R., et al. Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science 327, 78-81 (2010).
    • (2010) Science , vol.327 , pp. 78-81
    • Drmanac, R.1
  • 3
    • 24044455869 scopus 로고    scopus 로고
    • Genome sequencing in microfabricated high-density picolitre reactors
    • Margulies, M., et al. Genome sequencing in microfabricated high-density picolitre reactors. Nature 437, 376-380 (2005).
    • (2005) Nature , vol.437 , pp. 376-380
    • Margulies, M.1
  • 4
    • 24644462173 scopus 로고    scopus 로고
    • Accurate multiplex polony sequencing of an evolved bacterial genome
    • Shendure, J., et al. Accurate multiplex polony sequencing of an evolved bacterial genome. Science 309, 1728-1732 (2005).
    • (2005) Science , vol.309 , pp. 1728-1732
    • Shendure, J.1
  • 5
    • 42249087308 scopus 로고    scopus 로고
    • The complete genome of an individual by massively parallel DNA sequencing
    • Wheeler, D. A., et al. The complete genome of an individual by massively parallel DNA sequencing. Nature 452, 872-876 (2008).
    • (2008) Nature , vol.452 , pp. 872-876
    • Wheeler, D.A.1
  • 6
    • 62049085786 scopus 로고    scopus 로고
    • Transcriptome sequencing to detect gene fusions in cancer
    • Maher, C. A., et al. Transcriptome sequencing to detect gene fusions in cancer. Nature 458, 97-101 (2009).
    • (2009) Nature , vol.458 , pp. 97-101
    • Maher, C.A.1
  • 7
    • 68149176840 scopus 로고    scopus 로고
    • Chimeric transcript discovery by paired-end transcriptome sequencing
    • Maher, C. A., et al. Chimeric transcript discovery by paired-end transcriptome sequencing. Proc. Natl Acad. Sci. USA 106, 12353-12358 (2009).
    • (2009) Proc. Natl Acad. Sci. USA , vol.106 , pp. 12353-12358
    • Maher, C.A.1
  • 8
    • 73349110071 scopus 로고    scopus 로고
    • Exome sequencing identifies the cause of a Mendelian disorder
    • Ng, S. B., et al. Exome sequencing identifies the cause of a Mendelian disorder. Nature Genet. 42, 30-35 (2010).
    • (2010) Nature Genet. , vol.42 , pp. 30-35
    • Ng, S.B.1
  • 9
    • 70249111091 scopus 로고    scopus 로고
    • Targeted capture and massively parallel sequencing of 12 human exomes
    • Ng, S. B., et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461, 272-276 (2009).
    • (2009) Nature , vol.461 , pp. 272-276
    • Ng, S.B.1
  • 10
    • 55549101623 scopus 로고    scopus 로고
    • DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
    • Ley, T. J., et al. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature 456, 66-72 (2008).
    • (2008) Nature , vol.456 , pp. 66-72
    • Ley, T.J.1
  • 11
    • 70149093912 scopus 로고    scopus 로고
    • Recurring mutations found by sequencing an acute myeloid leukemia genome
    • Mardis, E. R., et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N. Engl. J. Med. 361, 1058-1066 (2009).
    • (2009) N. Engl. J. Med. , vol.361 , pp. 1058-1066
    • Mardis, E.R.1
  • 12
    • 74449093973 scopus 로고    scopus 로고
    • A comprehensive catalogue of somatic mutations from a human cancer genome
    • Pleasance, E. D., et al. A comprehensive catalogue of somatic mutations from a human cancer genome. Nature 463, 191-196 (2010).
    • (2010) Nature , vol.463 , pp. 191-196
    • Pleasance, E.D.1
  • 13
    • 74449085934 scopus 로고    scopus 로고
    • A small-cell lung cancer genome with complex signatures of tobacco exposure
    • Pleasance, E. D., et al. A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature 463, 184-190 (2010).
    • (2010) Nature , vol.463 , pp. 184-190
    • Pleasance, E.D.1
  • 14
    • 77953006634 scopus 로고    scopus 로고
    • The mutation spectrum revealed by paired genome sequences from a lung cancer patient
    • Lee, W., et al. The mutation spectrum revealed by paired genome sequences from a lung cancer patient. Nature 465, 473-477 (2010).
    • (2010) Nature , vol.465 , pp. 473-477
    • Lee, W.1
  • 15
    • 70349969478 scopus 로고    scopus 로고
    • Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution
    • Shah, S. P., et al. Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution. Nature 461, 809-813 (2009).
    • (2009) Nature , vol.461 , pp. 809-813
    • Shah, S.P.1
  • 16
    • 7944238044 scopus 로고    scopus 로고
    • Somatic alterations in the human cancer genome
    • Weir, B., Zhao, X. & Meyerson, M. Somatic alterations in the human cancer genome. Cancer Cell 6, 433-438 (2004).
    • (2004) Cancer Cell , vol.6 , pp. 433-438
    • Weir, B.1    Zhao, X.2    Meyerson, M.3
  • 17
    • 75249087060 scopus 로고    scopus 로고
    • Gefitinib versus cisplatin plus docetaxel in patients with non-small-cell lung cancer harbouring mutations of the epidermal growth factor receptor (WJTOG3405): An open label, randomised Phase 3 trial
    • Mitsudomi, T., et al. Gefitinib versus cisplatin plus docetaxel in patients with non-small-cell lung cancer harbouring mutations of the epidermal growth factor receptor (WJTOG3405): an open label, randomised Phase 3 trial. Lancet Oncol. 11, 121-128 (2009).
    • (2009) Lancet Oncol. , vol.11 , pp. 121-128
    • Mitsudomi, T.1
  • 18
    • 69949162760 scopus 로고    scopus 로고
    • Gefitinib or carboplatin-paclitaxel in pulmonary adenocarcinoma
    • Mok, T. S., et al. Gefitinib or carboplatin-paclitaxel in pulmonary adenocarcinoma. N. Engl. J. Med. 361, 947-957 (2009).
    • (2009) N. Engl. J. Med. , vol.361 , pp. 947-957
    • Mok, T.S.1
  • 19
    • 69949186250 scopus 로고    scopus 로고
    • Screening for epidermal growth factor receptor mutations in lung cancer
    • Rosell, R., et al. Screening for epidermal growth factor receptor mutations in lung cancer. N. Engl. J. Med. 361, 958-967 (2009).
    • (2009) N. Engl. J. Med. , vol.361 , pp. 958-967
    • Rosell, R.1
  • 21
    • 33745926178 scopus 로고    scopus 로고
    • Sensitive mutation detection in heterogeneous cancer specimens by massively parallel picoliter reactor sequencing
    • Thomas, R. K., et al. Sensitive mutation detection in heterogeneous cancer specimens by massively parallel picoliter reactor sequencing. Nature Med. 12, 852-855 (2006).
    • (2006) Nature Med. , vol.12 , pp. 852-855
    • Thomas, R.K.1
  • 22
    • 44349191457 scopus 로고    scopus 로고
    • Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
    • Campbell, P. J., et al. Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nature Genet. 40, 722-729 (2008).
    • (2008) Nature Genet. , vol.40 , pp. 722-729
    • Campbell, P.J.1
  • 23
    • 39749113080 scopus 로고    scopus 로고
    • Clonal integration of a polyomavirus in human Merkel cell carcinoma
    • Feng, H., Shuda, M., Chang, Y. & Moore, P. S. Clonal integration of a polyomavirus in human Merkel cell carcinoma. Science 319, 1096-1100 (2008).
    • (2008) Science , vol.319 , pp. 1096-1100
    • Feng, H.1    Shuda, M.2    Chang, Y.3    Moore, P.S.4
  • 24
    • 41349084225 scopus 로고    scopus 로고
    • Adding pathogens by genomic subtraction
    • MacConaill, L. & Meyerson, M. Adding pathogens by genomic subtraction. Nature Genet. 40, 380-382 (2008).
    • (2008) Nature Genet. , vol.40 , pp. 380-382
    • MacConaill, L.1    Meyerson, M.2
  • 25
    • 0036479008 scopus 로고    scopus 로고
    • Identification of foreign gene sequences by transcript filtering against the human genome
    • Weber, G., Shendure, J., Tanenbaum, D. M., Church, G. M. & Meyerson, M. Identification of foreign gene sequences by transcript filtering against the human genome. Nature Genet. 30, 141-142 (2002).
    • (2002) Nature Genet. , vol.30 , pp. 141-142
    • Weber, G.1    Shendure, J.2    Tanenbaum, D.M.3    Church, G.M.4    Meyerson, M.5
  • 26
    • 58149218240 scopus 로고    scopus 로고
    • High-resolution mapping of copynumber alterations with massively parallel sequencing
    • Chiang, D. Y., et al. High-resolution mapping of copynumber alterations with massively parallel sequencing. Nature Methods 6, 99-103 (2009).
    • (2009) Nature Methods , vol.6 , pp. 99-103
    • Chiang, D.Y.1
  • 27
    • 34548668869 scopus 로고    scopus 로고
    • Comment on "the consensus coding sequences of human breast and colorectal cancers"
    • Getz, G., et al. Comment on "The consensus coding sequences of human breast and colorectal cancers". Science 317, 1500 (2007).
    • (2007) Science , vol.317 , pp. 1500
    • Getz, G.1
  • 28
    • 54549108740 scopus 로고    scopus 로고
    • Comprehensive genomic characterization defines human glioblastoma genes and core pathways
    • The Cancer Genome Atlas Research Network
    • The Cancer Genome Atlas Research Network. Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature 455, 1061-1068 (2008).
    • (2008) Nature , vol.455 , pp. 1061-1068
  • 29
    • 33748591589 scopus 로고    scopus 로고
    • Assessment of whole genome amplification-induced bias through high-throughput, massively parallel whole genome sequencing
    • Pinard, R., et al. Assessment of whole genome amplification-induced bias through high-throughput, massively parallel whole genome sequencing. BMC Genomics 7, 216 (2006).
    • (2006) BMC Genomics , vol.7 , pp. 216
    • Pinard, R.1
  • 30
    • 77951631386 scopus 로고    scopus 로고
    • The isolation of nucleic acids from fixed, paraffin-embedded tissues-which methods are useful when?
    • Gilbert, M. T., et al. The isolation of nucleic acids from fixed, paraffin-embedded tissues-which methods are useful when? PLoS ONE 2, e537 (2007).
    • (2007) PLoS ONE , vol.2
    • Gilbert, M.T.1
  • 31
    • 77955778246 scopus 로고    scopus 로고
    • Using next-generation sequencing for high resolution multiplex analysis of copy number variation from nanogram quantities of DNA from formalin-fixed paraffin-embedded specimens
    • Wood, H. M., et al. Using next-generation sequencing for high resolution multiplex analysis of copy number variation from nanogram quantities of DNA from formalin-fixed paraffin-embedded specimens. Nucleic Acids Res. 38, e151 (2010).
    • (2010) Nucleic Acids Res. , vol.38
    • Wood, H.M.1
  • 32
    • 34249789581 scopus 로고    scopus 로고
    • EGFR and K-ras mutation analysis in non-small cell lung cancer: Comparison of paraffin embedded versus frozen specimens
    • Gallegos Ruiz, M. I., et al. EGFR and K-ras mutation analysis in non-small cell lung cancer: comparison of paraffin embedded versus frozen specimens. Cell Oncol. 29, 257-264 (2007).
    • (2007) Cell Oncol. , vol.29 , pp. 257-264
    • Gallegos Ruiz, M.I.1
  • 34
    • 74949101897 scopus 로고    scopus 로고
    • Inferring tumor progression from genomic heterogeneity
    • Navin, N., et al. Inferring tumor progression from genomic heterogeneity. Genome Res. 20, 68-80 (2010).
    • (2010) Genome Res. , vol.20 , pp. 68-80
    • Navin, N.1
  • 35
    • 77951139631 scopus 로고    scopus 로고
    • Genome remodelling in a basal-like breast cancer metastasis and xenograft
    • Ding, L., et al. Genome remodelling in a basal-like breast cancer metastasis and xenograft. Nature 464, 999-1005 (2010).
    • (2010) Nature , vol.464 , pp. 999-1005
    • Ding, L.1
  • 36
    • 53649106195 scopus 로고    scopus 로고
    • Next-generation DNA sequencing
    • Shendure, J. & Ji, H. Next-generation DNA sequencing. Nature Biotech. 26, 1135-1145 (2008).
    • (2008) Nature Biotech. , vol.26 , pp. 1135-1145
    • Shendure, J.1    Ji, H.2
  • 37
    • 58249138817 scopus 로고    scopus 로고
    • Generations of sequencing technologies
    • Pettersson, E., Lundeberg, J. & Ahmadian, A. Generations of sequencing technologies. Genomics 93, 105-111 (2009).
    • (2009) Genomics , vol.93 , pp. 105-111
    • Pettersson, E.1    Lundeberg, J.2    Ahmadian, A.3
  • 38
    • 67649453965 scopus 로고    scopus 로고
    • Genome-wide identification of DNA-protein interactions using chromatin immunoprecipitation coupled with flow cell sequencing
    • Hoffman, B. G. & Jones, S. J. Genome-wide identification of DNA-protein interactions using chromatin immunoprecipitation coupled with flow cell sequencing. J. Endocrinol. 201, 1-13 (2009).
    • (2009) J. Endocrinol. , vol.201 , pp. 1-13
    • Hoffman, B.G.1    Jones, S.J.2
  • 39
    • 72949119310 scopus 로고    scopus 로고
    • Complex landscapes of somatic rearrangement in human breast cancer genomes
    • Stephens, P. J., et al. Complex landscapes of somatic rearrangement in human breast cancer genomes. Nature 462, 1005-1010 (2009).
    • (2009) Nature , vol.462 , pp. 1005-1010
    • Stephens, P.J.1
  • 40
    • 0035750347 scopus 로고    scopus 로고
    • Chromosome translocations: Dangerous liaisons revisited
    • Rowley, J. D. Chromosome translocations: dangerous liaisons revisited. Nature Rev. Cancer 1, 245-250 (2001).
    • (2001) Nature Rev. Cancer , vol.1 , pp. 245-250
    • Rowley, J.D.1
  • 41
    • 34547633816 scopus 로고    scopus 로고
    • Cancer: Broken genes in solid tumours
    • Meyerson, M. Cancer: broken genes in solid tumours. Nature 448, 545-546 (2007).
    • (2007) Nature , vol.448 , pp. 545-546
    • Meyerson, M.1
  • 42
    • 27344451557 scopus 로고    scopus 로고
    • Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer
    • Tomlins, S. A., et al. Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer. Science 310, 644-648 (2005).
    • (2005) Science , vol.310 , pp. 644-648
    • Tomlins, S.A.1
  • 43
    • 34547638047 scopus 로고    scopus 로고
    • Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer
    • Soda, M., et al. Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer. Nature 448, 561-566 (2007).
    • (2007) Nature , vol.448 , pp. 561-566
    • Soda, M.1
  • 44
    • 77953880842 scopus 로고    scopus 로고
    • LINE-1 retrotransposition activity in human genomes
    • Beck, C. R., et al. LINE-1 retrotransposition activity in human genomes. Cell 141, 1159-1170 (2010).
    • (2010) Cell , vol.141 , pp. 1159-1170
    • Beck, C.R.1
  • 45
    • 77953892366 scopus 로고    scopus 로고
    • Mobile interspersed repeats are major structural variants in the human genome
    • Huang, C. R., et al. Mobile interspersed repeats are major structural variants in the human genome. Cell 141, 1171-1182 (2010).
    • (2010) Cell , vol.141 , pp. 1171-1182
    • Huang, C.R.1
  • 46
    • 35748951614 scopus 로고    scopus 로고
    • Direct selection of human genomic loci by microarray hybridization
    • Albert, T. J., et al. Direct selection of human genomic loci by microarray hybridization. Nature Methods 4, 903-905 (2007).
    • (2007) Nature Methods , vol.4 , pp. 903-905
    • Albert, T.J.1
  • 47
    • 59849113821 scopus 로고    scopus 로고
    • Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
    • Gnirke, A., et al. Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nature Biotech. 27, 182-189 (2009).
    • (2009) Nature Biotech. , vol.27 , pp. 182-189
    • Gnirke, A.1
  • 48
    • 36549021060 scopus 로고    scopus 로고
    • Genome-wide in situ exon capture for selective resequencing
    • Hodges, E., et al. Genome-wide in situ exon capture for selective resequencing. Nature Genet. 39, 1522-1527 (2007).
    • (2007) Nature Genet. , vol.39 , pp. 1522-1527
    • Hodges, E.1
  • 49
    • 67349179787 scopus 로고    scopus 로고
    • Massively parallel exon capture and library-free resequencing across 16 genomes
    • Turner, E. H., Lee, C., Ng, S. B., Nickerson, D. A. & Shendure, J. Massively parallel exon capture and library-free resequencing across 16 genomes. Nature Methods 6, 315-316 (2009).
    • (2009) Nature Methods , vol.6 , pp. 315-316
    • Turner, E.H.1    Lee, C.2    Ng, S.B.3    Nickerson, D.A.4    Shendure, J.5
  • 50
    • 75349100601 scopus 로고    scopus 로고
    • Targeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts
    • Levin, J. Z., et al. Targeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts. Genome Biol. 10, R115 (2009).
    • (2009) Genome Biol. , vol.10
    • Levin, J.Z.1
  • 51
    • 18444374405 scopus 로고    scopus 로고
    • Mutations of the BRAF gene in human cancer
    • Davies, H., et al. Mutations of the BRAF gene in human cancer. Nature 417, 949-954 (2002).
    • (2002) Nature , vol.417 , pp. 949-954
    • Davies, H.1
  • 52
    • 2342624080 scopus 로고    scopus 로고
    • EGFR mutations in lung cancer: Correlation with clinical response to gefitinib therapy
    • Paez, J. G., et al. EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science 304, 1497-1500 (2004).
    • (2004) Science , vol.304 , pp. 1497-1500
    • Paez, J.G.1
  • 53
    • 2342471392 scopus 로고    scopus 로고
    • Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib
    • Lynch, T. J., et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N. Engl. J. Med. 350, 2129-2139 (2004).
    • (2004) N. Engl. J. Med. , vol.350 , pp. 2129-2139
    • Lynch, T.J.1
  • 54
    • 4444344330 scopus 로고    scopus 로고
    • EGF receptor gene mutations are common in lung cancers from never smokers and are associated with sensitivity of tumors to gefitinib and erlotinib
    • Pao, W., et al. EGF receptor gene mutations are common in lung cancers from never smokers and are associated with sensitivity of tumors to gefitinib and erlotinib. Proc. Natl Acad. Sci. USA 101, 13306-13311 (2004).
    • (2004) Proc. Natl Acad. Sci. USA , vol.101 , pp. 13306-13311
    • Pao, W.1
  • 55
    • 4944232647 scopus 로고    scopus 로고
    • Lung cancer: Intragenic ERBB2 kinase mutations in tumours
    • Stephens, P., et al. Lung cancer: intragenic ERBB2 kinase mutations in tumours. Nature 431, 525-526 (2004).
    • (2004) Nature , vol.431 , pp. 525-526
    • Stephens, P.1
  • 56
    • 20144363192 scopus 로고    scopus 로고
    • Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders
    • Baxter, E. J., et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365, 1054-1061 (2005).
    • (2005) Lancet , vol.365 , pp. 1054-1061
    • Baxter, E.J.1
  • 57
    • 17844383458 scopus 로고    scopus 로고
    • A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera
    • James, C., et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 434, 1144-1148 (2005).
    • (2005) Nature , vol.434 , pp. 1144-1148
    • James, C.1
  • 58
    • 17644424955 scopus 로고    scopus 로고
    • A gain-of-function mutation of JAK2 in myeloproliferative disorders
    • Kralovics, R., et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N. Engl. J. Med. 352, 1779-1790 (2005).
    • (2005) N. Engl. J. Med. , vol.352 , pp. 1779-1790
    • Kralovics, R.1
  • 59
    • 20244369569 scopus 로고    scopus 로고
    • Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis
    • Levine, R. L., et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 7, 387-397 (2005).
    • (2005) Cancer Cell , vol.7 , pp. 387-397
    • Levine, R.L.1
  • 60
    • 20744460045 scopus 로고    scopus 로고
    • Identification of an acquired JAK2 mutation in polycythemia vera
    • Zhao, R., et al. Identification of an acquired JAK2 mutation in polycythemia vera. J. Biol. Chem. 280, 22788-22792 (2005).
    • (2005) J. Biol. Chem. , vol.280 , pp. 22788-22792
    • Zhao, R.1
  • 61
    • 47249122523 scopus 로고    scopus 로고
    • Drug-sensitive FGFR2 mutations in endometrial carcinoma
    • Dutt, A., et al. Drug-sensitive FGFR2 mutations in endometrial carcinoma. Proc. Natl Acad. Sci. USA 105, 8713-8717 (2008).
    • (2008) Proc. Natl Acad. Sci. USA , vol.105 , pp. 8713-8717
    • Dutt, A.1
  • 62
    • 34250829395 scopus 로고    scopus 로고
    • Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes
    • Pollock, P. M., et al. Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. Oncogene 26, 7158-7162 (2007).
    • (2007) Oncogene , vol.26 , pp. 7158-7162
    • Pollock, P.M.1
  • 63
    • 54049118823 scopus 로고    scopus 로고
    • Oncogenic mutations of ALK kinase in neuroblastoma
    • Chen, Y., et al. Oncogenic mutations of ALK kinase in neuroblastoma. Nature 455, 971-974 (2008).
    • (2008) Nature , vol.455 , pp. 971-974
    • Chen, Y.1
  • 64
    • 54049120220 scopus 로고    scopus 로고
    • Activating mutations in ALK provide a therapeutic target in neuroblastoma
    • George, R. E., et al. Activating mutations in ALK provide a therapeutic target in neuroblastoma. Nature 455, 975-978 (2008).
    • (2008) Nature , vol.455 , pp. 975-978
    • George, R.E.1
  • 65
    • 54049149961 scopus 로고    scopus 로고
    • Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma
    • Janoueix-Lerosey, I., et al. Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. Nature 455, 967-970 (2008).
    • (2008) Nature , vol.455 , pp. 967-970
    • Janoueix-Lerosey, I.1
  • 66
    • 54049094708 scopus 로고    scopus 로고
    • Identification of ALK as a major familial neuroblastoma predisposition gene
    • Mosse, Y. P., et al. Identification of ALK as a major familial neuroblastoma predisposition gene. Nature 455, 930-935 (2008).
    • (2008) Nature , vol.455 , pp. 930-935
    • Mosse, Y.P.1
  • 67
    • 11144358645 scopus 로고    scopus 로고
    • High frequency of mutations of the PIK3CA gene in human cancers
    • Samuels, Y., et al. High frequency of mutations of the PIK3CA gene in human cancers. Science 304, 554 (2004).
    • (2004) Science , vol.304 , pp. 554
    • Samuels, Y.1
  • 68
    • 52149123619 scopus 로고    scopus 로고
    • Core signaling pathways in human pancreatic cancers revealed by global genomic analyses
    • Jones, S., et al. Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. Science 321, 1801-1806 (2008).
    • (2008) Science , vol.321 , pp. 1801-1806
    • Jones, S.1
  • 69
    • 52949127312 scopus 로고    scopus 로고
    • An integrated genomic analysis of human glioblastoma multiforme
    • Parsons, D. W., et al. An integrated genomic analysis of human glioblastoma multiforme. Science 321, 1807-1812 (2008).
    • (2008) Science , vol.321 , pp. 1807-1812
    • Parsons, D.W.1
  • 70
    • 33749993417 scopus 로고    scopus 로고
    • The consensus coding sequences of human breast and colorectal cancers
    • Sjoblom, T., et al. The consensus coding sequences of human breast and colorectal cancers. Science 314, 268-274 (2006).
    • (2006) Science , vol.314 , pp. 268-274
    • Sjoblom, T.1
  • 71
    • 36248962105 scopus 로고    scopus 로고
    • The genomic landscapes of human breast and colorectal cancers
    • Wood, L. D., et al. The genomic landscapes of human breast and colorectal cancers. Science 318, 1108-1113 (2007).
    • (2007) Science , vol.318 , pp. 1108-1113
    • Wood, L.D.1
  • 72
    • 64849092309 scopus 로고    scopus 로고
    • Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene
    • Jones, S., et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science 324, 217 (2009).
    • (2009) Science , vol.324 , pp. 217
    • Jones, S.1
  • 73
    • 77953565946 scopus 로고    scopus 로고
    • Whole exome capture in solution with 3 Gbp of data
    • Bainbridge, M. N., et al. Whole exome capture in solution with 3 Gbp of data. Genome Biol. 11, R62 (2010).
    • (2010) Genome Biol. , vol.11
    • Bainbridge, M.N.1
  • 74
    • 33847293670 scopus 로고    scopus 로고
    • High-throughput oncogene mutation profiling in human cancer
    • Thomas, R. K., et al. High-throughput oncogene mutation profiling in human cancer. Nature Genet. 39, 347-351 (2007).
    • (2007) Nature Genet. , vol.39 , pp. 347-351
    • Thomas, R.K.1
  • 75
    • 77950633122 scopus 로고    scopus 로고
    • Integrative analysis of the melanoma transcriptome
    • Berger, M. F., et al. Integrative analysis of the melanoma transcriptome. Genome Res. 20, 413-427 (2010).
    • (2010) Genome Res. , vol.20 , pp. 413-427
    • Berger, M.F.1
  • 76
    • 77954526989 scopus 로고    scopus 로고
    • Rearrangements of the RAF kinase pathway in prostate cancer, gastric cancer and melanoma
    • Palanisamy, N., et al. Rearrangements of the RAF kinase pathway in prostate cancer, gastric cancer and melanoma. Nature Med. 16, 793-798 (2010).
    • (2010) Nature Med. , vol.16 , pp. 793-798
    • Palanisamy, N.1
  • 77
    • 67649406102 scopus 로고    scopus 로고
    • Mutation of FOXL2 in granulosa-cell tumors of the ovary
    • Shah, S. P., et al. Mutation of FOXL2 in granulosa-cell tumors of the ovary. N. Engl. J. Med. 360, 2719-2729 (2009).
    • (2009) N. Engl. J. Med. , vol.360 , pp. 2719-2729
    • Shah, S.P.1
  • 78
    • 70349636603 scopus 로고    scopus 로고
    • Next-generation tag sequencing for cancer gene expression profiling
    • Morrissy, A. S., et al. Next-generation tag sequencing for cancer gene expression profiling. Genome Res. 19, 1825-1835 (2009).
    • (2009) Genome Res. , vol.19 , pp. 1825-1835
    • Morrissy, A.S.1
  • 79
    • 54549094903 scopus 로고    scopus 로고
    • Somatic mutations affect key pathways in lung adenocarcinoma
    • Ding, L., et al. Somatic mutations affect key pathways in lung adenocarcinoma. Nature 455, 1069-1075 (2008).
    • (2008) Nature , vol.455 , pp. 1069-1075
    • Ding, L.1
  • 80
    • 77951957381 scopus 로고    scopus 로고
    • SNVMix: Predicting single nucleotide variants from next-generation sequencing of tumors
    • Goya, R., et al. SNVMix: predicting single nucleotide variants from next-generation sequencing of tumors. Bioinformatics 26, 730-736 (2010).
    • (2010) Bioinformatics , vol.26 , pp. 730-736
    • Goya, R.1
  • 81
    • 0035026704 scopus 로고    scopus 로고
    • Predicting deleterious amino acid substitutions
    • Ng, P. C. & Henikoff, S. Predicting deleterious amino acid substitutions. Genome Res. 11, 863-874 (2001).
    • (2001) Genome Res. , vol.11 , pp. 863-874
    • Ng, P.C.1    Henikoff, S.2
  • 82
    • 34547566118 scopus 로고    scopus 로고
    • Can predict: A computational tool for predicting cancerassociated missense mutations
    • Kaminker, J. S., Zhang, Y., Watanabe, C. & Zhang, Z. CanPredict: a computational tool for predicting cancerassociated missense mutations. Nucleic Acids Res. 35, W595-W598 (2007).
    • (2007) Nucleic Acids Res. , vol.35
    • Kaminker, J.S.1    Zhang, Y.2    Watanabe, C.3    Zhang, Z.4
  • 83
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei, I. A., et al. A method and server for predicting damaging missense mutations. Nature Methods 7, 248-249 (2010).
    • (2010) Nature Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1
  • 84
    • 0036713510 scopus 로고    scopus 로고
    • Human nonsynonymous SNPs: Server and survey
    • Ramensky, V., Bork, P. & Sunyaev, S. Human nonsynonymous SNPs: server and survey. Nucleic Acids Res. 30, 3894-3900 (2002).
    • (2002) Nucleic Acids Res. , vol.30 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 85
    • 69249115697 scopus 로고    scopus 로고
    • Cancer-specific high-throughput annotation of somatic mutations: Computational prediction of driver missense mutations
    • Carter, H., et al. Cancer-specific high-throughput annotation of somatic mutations: computational prediction of driver missense mutations. Cancer Res. 69, 6660-6667 (2009).
    • (2009) Cancer Res. , vol.69 , pp. 6660-6667
    • Carter, H.1
  • 86
    • 0037079003 scopus 로고    scopus 로고
    • Rules for making human tumor cells
    • Hahn, W. C. & Weinberg, R. A. Rules for making human tumor cells. N. Engl. J. Med. 347, 1593-1603 (2002).
    • (2002) N. Engl. J. Med. , vol.347 , pp. 1593-1603
    • Hahn, W.C.1    Weinberg, R.A.2
  • 87
    • 38049100456 scopus 로고    scopus 로고
    • Assessing the significance of chromosomal aberrations in cancer: Methodology and application to glioma
    • Beroukhim, R., et al. Assessing the significance of chromosomal aberrations in cancer: methodology and application to glioma. Proc. Natl Acad. Sci. USA 104, 20007-20012 (2007).
    • (2007) Proc. Natl Acad. Sci. USA , vol.104 , pp. 20007-20012
    • Beroukhim, R.1
  • 88
    • 77249119762 scopus 로고    scopus 로고
    • The landscape of somatic copynumber alteration across human cancers
    • Beroukhim, R., et al. The landscape of somatic copynumber alteration across human cancers. Nature 463, 899-905 (2010).
    • (2010) Nature , vol.463 , pp. 899-905
    • Beroukhim, R.1
  • 89
    • 77249123407 scopus 로고    scopus 로고
    • Signatures of mutation and selection in the cancer genome
    • Bignell, G. R., et al. Signatures of mutation and selection in the cancer genome. Nature 463, 893-898 (2010).
    • (2010) Nature , vol.463 , pp. 893-898
    • Bignell, G.R.1
  • 90
    • 10744230160 scopus 로고    scopus 로고
    • High-resolution analysis of DNA copy number using oligonucleotide microarrays
    • Bignell, G. R., et al. High-resolution analysis of DNA copy number using oligonucleotide microarrays. Genome Res. 14, 287-295 (2004).
    • (2004) Genome Res. , vol.14 , pp. 287-295
    • Bignell, G.R.1
  • 91
    • 34147224008 scopus 로고    scopus 로고
    • Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia
    • Mullighan, C. G., et al. Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia. Nature 446, 758-764 (2007).
    • (2007) Nature , vol.446 , pp. 758-764
    • Mullighan, C.G.1
  • 92
    • 36248980204 scopus 로고    scopus 로고
    • Characterizing the cancer genome in lung adenocarcinoma
    • Weir, B. A., et al. Characterizing the cancer genome in lung adenocarcinoma. Nature 450, 893-898 (2007).
    • (2007) Nature , vol.450 , pp. 893-898
    • Weir, B.A.1
  • 93
    • 2342453338 scopus 로고    scopus 로고
    • An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays
    • Zhao, X., et al. An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays. Cancer Res. 64, 3060-3071 (2004).
    • (2004) Cancer Res. , vol.64 , pp. 3060-3071
    • Zhao, X.1
  • 94
    • 21344437734 scopus 로고    scopus 로고
    • Homozygous deletions and chromosome amplifications in human lung carcinomas revealed by single nucleotide polymorphism array analysis
    • Zhao, X., et al. Homozygous deletions and chromosome amplifications in human lung carcinomas revealed by single nucleotide polymorphism array analysis. Cancer Res. 65, 5561-5570 (2005).
    • (2005) Cancer Res. , vol.65 , pp. 5561-5570
    • Zhao, X.1
  • 95
    • 4344578211 scopus 로고    scopus 로고
    • Genomic representations using concatenates of type IIB restriction endonuclease digestion fragments
    • Tengs, T., et al. Genomic representations using concatenates of type IIB restriction endonuclease digestion fragments. Nucleic Acids Res. 32, e121 (2004).
    • (2004) Nucleic Acids Res. , vol.32
    • Tengs, T.1
  • 96
    • 18744416514 scopus 로고    scopus 로고
    • Digital karyotyping
    • Wang, T. L., et al. Digital karyotyping. Proc. Natl Acad. Sci. USA 99, 16156-16161 (2002).
    • (2002) Proc. Natl Acad. Sci. USA , vol.99 , pp. 16156-16161
    • Wang, T.L.1
  • 98
    • 69549116107 scopus 로고    scopus 로고
    • BreakDancer: An algorithm for high-resolution mapping of genomic structural variation
    • Chen, K., et al. BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. Nature Methods 6, 677-681 (2009).
    • (2009) Nature Methods , vol.6 , pp. 677-681
    • Chen, K.1
  • 99
    • 77952962769 scopus 로고    scopus 로고
    • Development of personalized tumor biomarkers using massively parallel sequencing
    • Leary, R. J., et al. Development of personalized tumor biomarkers using massively parallel sequencing. Sci. Transl. Med. 2, 20ra14 (2010).
    • (2010) Sci. Transl. Med. , vol.2
    • Leary, R.J.1
  • 100
    • 0000538165 scopus 로고
    • Human c-myc onc gene is located on the region of chromosome 8 that is translocated in Burkitt lymphoma cells
    • Dalla-Favera, R., et al. Human c-myc onc gene is located on the region of chromosome 8 that is translocated in Burkitt lymphoma cells. Proc. Natl Acad. Sci. USA 79, 7824-7827 (1982).
    • (1982) Proc. Natl Acad. Sci. USA , vol.79 , pp. 7824-7827
    • Dalla-Favera, R.1
  • 101
    • 0003155061 scopus 로고
    • A papillomavirus DNA from a cervical carcinoma and its prevalence in cancer biopsy samples from different geographic regions
    • Durst, M., Gissmann, L., Ikenberg, H. & zur Hausen, H. A papillomavirus DNA from a cervical carcinoma and its prevalence in cancer biopsy samples from different geographic regions. Proc. Natl Acad. Sci. USA 80, 3812-3815 (1983).
    • (1983) Proc. Natl Acad. Sci. USA , vol.80 , pp. 3812-3815
    • Durst, M.1    Gissmann, L.2    Ikenberg, H.3    Zur Hausen, H.4
  • 102
    • 35148898713 scopus 로고    scopus 로고
    • Human transcriptome subtraction by using short sequence tags to search for tumor viruses in conjunctival carcinoma
    • Feng, H., et al. Human transcriptome subtraction by using short sequence tags to search for tumor viruses in conjunctival carcinoma. J. Virol. 81, 11332-11340 (2007).
    • (2007) J. Virol. , vol.81 , pp. 11332-11340
    • Feng, H.1
  • 103
    • 0037345377 scopus 로고    scopus 로고
    • Pathogen discovery from human tissue by sequence-based computational subtraction
    • Xu, Y., et al. Pathogen discovery from human tissue by sequence-based computational subtraction. Genomics 81, 329-335 (2003).
    • (2003) Genomics , vol.81 , pp. 329-335
    • Xu, Y.1
  • 104
    • 68549104404 scopus 로고    scopus 로고
    • The Sequence Alignment/Map format and SAMtools
    • Li, H., et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics 25, 2078-2079 (2009).
    • (2009) Bioinformatics , vol.25 , pp. 2078-2079
    • Li, H.1
  • 105
    • 69949122158 scopus 로고    scopus 로고
    • VarScan: Variant detection in massively parallel sequencing of individual and pooled samples
    • Koboldt, D. C., et al. VarScan: variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics 25, 2283-2285 (2009).
    • (2009) Bioinformatics , vol.25 , pp. 2283-2285
    • Koboldt, D.C.1
  • 106
    • 70350694443 scopus 로고    scopus 로고
    • Pindel: A pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
    • Ye, K., Schulz, M. H., Long, Q., Apweiler, R. & Ning, Z. Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics 25, 2865-2871 (2009).
    • (2009) Bioinformatics , vol.25 , pp. 2865-2871
    • Ye, K.1    Schulz, M.H.2    Long, Q.3    Apweiler, R.4    Ning, Z.5
  • 107
    • 77956295988 scopus 로고    scopus 로고
    • The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
    • 19 Jul 2010 (doi:10.1101/gr.107524.110)
    • McKenna, A. H., et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 19 Jul 2010 (doi:10.1101/gr.107524.110).
    • Genome Res
    • McKenna, A.H.1
  • 108
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754-1760 (2009).
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 109
    • 77949587649 scopus 로고    scopus 로고
    • Fast and accurate long-read alignment with Burrows-Wheeler transform
    • Li, H. & Durbin, R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 26, 589-595 (2010).
    • (2010) Bioinformatics , vol.26 , pp. 589-595
    • Li, H.1    Durbin, R.2
  • 110
    • 0034764307 scopus 로고    scopus 로고
    • SSAHA: A fast search method for large DNA databases
    • Ning, Z., Cox, A. J. & Mullikin, J. C. SSAHA: a fast search method for large DNA databases. Genome Res. 11, 1725-1729 (2001).
    • (2001) Genome Res. , vol.11 , pp. 1725-1729
    • Ning, Z.1    Cox, A.J.2    Mullikin, J.C.3
  • 111
    • 62349130698 scopus 로고    scopus 로고
    • Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
    • Langmead, B., Trapnell, C., Pop, M. & Salzberg, S. L. Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Biol. 10, R25 (2009).
    • (2009) Genome Biol. , vol.10
    • Langmead, B.1    Trapnell, C.2    Pop, M.3    Salzberg, S.L.4
  • 112
    • 67650711615 scopus 로고    scopus 로고
    • SOAP2: An improved ultrafast tool for short read alignment
    • Li, R., et al. SOAP2: an improved ultrafast tool for short read alignment. Bioinformatics 25, 1966-1967 (2009).
    • (2009) Bioinformatics , vol.25 , pp. 1966-1967
    • Li, R.1
  • 113
    • 67049159825 scopus 로고    scopus 로고
    • SHRiMP: Accurate mapping of short color-space reads
    • Rumble, S. M., et al. SHRiMP: accurate mapping of short color-space reads. PLoS Comput. Biol. 5, e1000386 (2009).
    • (2009) PLoS Comput. Biol. , vol.5
    • Rumble, S.M.1
  • 114
    • 70450177746 scopus 로고    scopus 로고
    • BFAST: An alignment tool for large scale genome resequencing
    • Homer, N., Merriman, B. & Nelson, S. F. BFAST: an alignment tool for large scale genome resequencing. PLoS ONE 4, e7767 (2009).
    • (2009) PLoS ONE , vol.4
    • Homer, N.1    Merriman, B.2    Nelson, S.F.3
  • 115
    • 33746972191 scopus 로고    scopus 로고
    • Allele-specific amplification in cancer revealed by SNP array analysis
    • LaFramboise, T., et al. Allele-specific amplification in cancer revealed by SNP array analysis. PLoS Comput. Biol. 1, e65 (2005).
    • (2005) PLoS Comput. Biol. , vol.1
    • Laframboise, T.1
  • 116
    • 47949114668 scopus 로고    scopus 로고
    • Detection of mutations in EGFR in circulating lung-cancer cells
    • Maheswaran, S., et al. Detection of mutations in EGFR in circulating lung-cancer cells. N. Engl. J. Med. 359, 366-377 (2008).
    • (2008) N. Engl. J. Med. , vol.359 , pp. 366-377
    • Maheswaran, S.1
  • 117
    • 55549089660 scopus 로고    scopus 로고
    • Accurate whole human genome sequencing using reversible terminator chemistry
    • Bentley, D. R., et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456, 53-59 (2008).
    • (2008) Nature , vol.456 , pp. 53-59
    • Bentley, D.R.1
  • 118
    • 34147104969 scopus 로고    scopus 로고
    • A faster circular binary segmentation algorithm for the analysis of array CGH data
    • Venkatraman, E. S. & Olshen, A. B. A faster circular binary segmentation algorithm for the analysis of array CGH data. Bioinformatics 23, 657-663 (2007).
    • (2007) Bioinformatics , vol.23 , pp. 657-663
    • Venkatraman, E.S.1    Olshen, A.B.2
  • 119
    • 44949137643 scopus 로고    scopus 로고
    • Determinants of protein function revealed by combinatorial entropy optimization
    • Reva, B., Antipin, Y. & Sander, C. Determinants of protein function revealed by combinatorial entropy optimization. Genome Biol. 8, R232 (2007).
    • (2007) Genome Biol. , vol.8
    • Reva, B.1    Antipin, Y.2    Sander, C.3
  • 120
    • 69649109364 scopus 로고    scopus 로고
    • Circos: An information aesthetic for comparative genomics
    • Krzywinski, M., et al. Circos: an information aesthetic for comparative genomics. Genome Res. 19, 1639-1645 (2009).
    • (2009) Genome Res. , vol.19 , pp. 1639-1645
    • Krzywinski, M.1


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