메뉴 건너뛰기




Volumn 11, Issue 3, 2011, Pages 333-343

Next-generation sequencing and its applications in molecular diagnostics

Author keywords

ChIP Seq; massively parallel sequencing; molecular diagnostics; next generation sequencing; RNA Seq; single nucleotide variant; transcriptome

Indexed keywords

DNA; DNA FRAGMENT; RNA;

EID: 79953826567     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/erm.11.3     Document Type: Review
Times cited : (143)

References (84)
  • 1
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies - The next generation
    • A comprehensive review and perspective of next-generation sequencing (NGS) technologies
    • Metzker ML. Sequencing technologies - the next generation. Nat. Rev. Genet. 11(1), 31-46 (2010). A comprehensive review and perspective of next-generation sequencing (NGS) technologies.
    • (2010) Nat. Rev. Genet. , vol.11 , Issue.1 , pp. 31-46
    • Metzker, M.L.1
  • 2
    • 0017681196 scopus 로고
    • DNA sequencing with chain-terminating inhibitors
    • Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc. Natl Acad. Sci. USA 74(12), 5463-5467 (1977).
    • (1977) Proc. Natl Acad. Sci. USA , vol.74 , Issue.12 , pp. 5463-5467
    • Sanger, F.1    Nicklen, S.2    Coulson, A.R.3
  • 3
    • 42249087308 scopus 로고    scopus 로고
    • The complete genome of an individual by massively parallel DNA sequencing
    • Wheeler DA, Srinivasan M, Egholm M et al. The complete genome of an individual by massively parallel DNA sequencing. Nature 452(7189), 872-876 (2008).
    • (2008) Nature , vol.452 , Issue.7189 , pp. 872-876
    • Wheeler, D.A.1    Srinivasan, M.2    Egholm, M.3
  • 4
    • 70449953975 scopus 로고    scopus 로고
    • The complex eukaryotic transcriptome: Unexpected pervasive transcription and novel small RNAs
    • Jacquier A. The complex eukaryotic transcriptome: unexpected pervasive transcription and novel small RNAs. Nat. Rev. Genet. 10(12), 833-844 (2009).
    • (2009) Nat. Rev. Genet. , vol.10 , Issue.12 , pp. 833-844
    • Jacquier, A.1
  • 5
    • 55949095205 scopus 로고    scopus 로고
    • Keeping up with the next generation: Massively parallel sequencing in clinical diagnostics
    • Brief review of the application of NGS in clinical diagnostics, including technical consideration, clinical potential, utility and challenges for testing reporting. In addition, ethical considerations were also discussed
    • ten Bosch JR, Grody WW. Keeping up with the next generation: massively parallel sequencing in clinical diagnostics. J. Mol. Diagn. 10(6), 484-492 (2008). Brief review of the application of NGS in clinical diagnostics, including technical consideration, clinical potential, utility and challenges for testing reporting. In addition, ethical considerations were also discussed.
    • (2008) J. Mol. Diagn. , vol.10 , Issue.6 , pp. 484-492
    • Ten Bosch, J.R.1    Grody, W.W.2
  • 6
    • 72449209239 scopus 로고    scopus 로고
    • Next-generation sequencing of cancer genomes: Back to the future
    • Walter MJ, Graubert TA, Dipersio JF et al. Next-generation sequencing of cancer genomes: back to the future. Personalized Medicine 6(6), 653-662 (2009).
    • (2009) Personalized Medicine , vol.6 , Issue.6 , pp. 653-662
    • Walter, M.J.1    Graubert, T.A.2    Dipersio, J.F.3
  • 7
    • 73949159645 scopus 로고    scopus 로고
    • Does massively parallel DNA resequencing signify the end of histopathology as we know it?
    • Aparicio SAJR, Huntsman DG. Does massively parallel DNA resequencing signify the end of histopathology as we know it? J. Pathol. 220(2), 307-315 (2010).
    • (2010) J. Pathol. , vol.220 , Issue.2 , pp. 307-315
    • Sajr, A.1    Huntsman, D.G.2
  • 8
    • 0031854986 scopus 로고    scopus 로고
    • Man-made cell-like compartments for molecular evolution
    • Tawfik DS, Griffiths AD. Man-made cell-like compartments for molecular evolution. Nat. Biotechnol. 16(7), 652-656 (1998).
    • (1998) Nat. Biotechnol. , vol.16 , Issue.7 , pp. 652-656
    • Tawfik, D.S.1    Griffiths, A.D.2
  • 9
    • 0027478270 scopus 로고
    • Solid phase DNA minisequencing by an enzymatic luminometric inorganic pyrophosphate detection assay
    • Nyren P, Pettersson B, Uhlen M. Solid phase DNA minisequencing by an enzymatic luminometric inorganic pyrophosphate detection assay. Anal. Biochem. 208(1), 171-175 (1993).
    • (1993) Anal. Biochem. , vol.208 , Issue.1 , pp. 171-175
    • Nyren, P.1    Pettersson, B.2    Uhlen, M.3
  • 10
    • 53649106195 scopus 로고    scopus 로고
    • Next-generation DNA sequencing
    • Shendure J, Ji H. Next-generation DNA sequencing. Nat. Biotechnol. 26(10), 1135-1145 (2008).
    • (2008) Nat. Biotechnol. , vol.26 , Issue.10 , pp. 1135-1145
    • Shendure, J.1    Ji, H.2
  • 11
    • 52649157765 scopus 로고    scopus 로고
    • Substantial biases in ultra-short read data sets from high-throughput DNA sequencing
    • Dohm JC, Lottaz C, Borodina T, Himmelbauer H. Substantial biases in ultra-short read data sets from high-throughput DNA sequencing. Nucleic Acids Res. 36(16), e105 (2008).
    • (2008) Nucleic Acids Res. , vol.36 , Issue.16
    • Dohm, J.C.1    Lottaz, C.2    Borodina, T.3    Himmelbauer, H.4
  • 12
    • 24644462173 scopus 로고    scopus 로고
    • Accurate multiplex polony sequencing of an evolved bacterial genome
    • Shendure J, Porreca GJ, Reppas NB et al. Accurate multiplex polony sequencing of an evolved bacterial genome. Science 309(5741), 1728-1732 (2005).
    • (2005) Science , vol.309 , Issue.5741 , pp. 1728-1732
    • Shendure, J.1    Porreca, G.J.2    Reppas, N.B.3
  • 13
    • 77951964897 scopus 로고    scopus 로고
    • Filtering error from SOLiD output
    • Sasson A, Michael TP. Filtering error from SOLiD output. Bioinformatics 26(6), 849-850 (2010).
    • (2010) Bioinformatics , vol.26 , Issue.6 , pp. 849-850
    • Sasson, A.1    Michael, T.P.2
  • 14
    • 65449144325 scopus 로고    scopus 로고
    • Evaluation of next generation sequencing platforms for population targeted sequencing studies
    • Harismendy O, Ng PC, Strausberg RL et al. Evaluation of next generation sequencing platforms for population targeted sequencing studies. Genome Biol. 10(3), R32 (2009).
    • (2009) Genome Biol. , vol.10 , Issue.3
    • Harismendy, O.1    Ng, P.C.2    Strausberg, R.L.3
  • 16
    • 68349095077 scopus 로고    scopus 로고
    • Virtual terminator nucleotides for next-generation DNA sequencing
    • Bowers J, Mitchell J, Beer E et al. Virtual terminator nucleotides for next-generation DNA sequencing. Nat. Methods 6(8), 593-595 (2009).
    • (2009) Nat. Methods , vol.6 , Issue.8 , pp. 593-595
    • Bowers, J.1    Mitchell, J.2    Beer, E.3
  • 17
    • 41749104588 scopus 로고    scopus 로고
    • Single-molecule DNA sequencing of a viral genome
    • Harris TD, Buzby PR, Babcock H et al. Single-molecule DNA sequencing of a viral genome. Science 320(5872), 106-109 (2008).
    • (2008) Science , vol.320 , Issue.5872 , pp. 106-109
    • Harris, T.D.1    Buzby, P.R.2    Babcock, H.3
  • 18
    • 70349956497 scopus 로고    scopus 로고
    • Direct RNA sequencing
    • Ozsolak F, Platt AR, Jones DR et al. Direct RNA sequencing. Nature 461(7265), 814-818 (2009).
    • (2009) Nature , vol.461 , Issue.7265 , pp. 814-818
    • Ozsolak, F.1    Platt, A.R.2    Jones, D.R.3
  • 19
    • 64149123778 scopus 로고    scopus 로고
    • Next-generation sequencing: From basic research to diagnostics
    • Voelkerding KV, Dames SA, Durtschi JD. Next-generation sequencing: from basic research to diagnostics. Clin. Chem. 55(4), 641-658 (2009).
    • (2009) Clin. Chem. , vol.55 , Issue.4 , pp. 641-658
    • Voelkerding, K.V.1    Dames, S.A.2    Durtschi, J.D.3
  • 20
    • 53649095314 scopus 로고    scopus 로고
    • Prepare for the deluge
    • Editorial
    • Editorial. Prepare for the deluge. Nat. Biotechnol. 26(10), 1099 (2008).
    • (2008) Nat. Biotechnol. , vol.26 , Issue.10 , pp. 1099
  • 21
    • 49649083648 scopus 로고    scopus 로고
    • The balance of reproducibility, sensitivity, and specificity of lists of differentially expressed genes in microarray studies
    • Shi L, Jones WD, Jensen RV et al. The balance of reproducibility, sensitivity, and specificity of lists of differentially expressed genes in microarray studies. BMC Bioinformatics 9(Suppl. 9), S10 (2008).
    • (2008) BMC Bioinformatics , vol.9 , Issue.SUPPL. 9
    • Shi, L.1    Jones, W.D.2    Jensen, R.V.3
  • 22
    • 33748491517 scopus 로고    scopus 로고
    • The MicroArray Quality Control (MAQC) project shows inter- And intraplatform reproducibility of gene expression measurements
    • Shi L, Reid LH, Jones WD et al. The MicroArray Quality Control (MAQC) project shows inter- and intraplatform reproducibility of gene expression measurements. Nat. Biotechnol. 24(9), 1151-1161 (2006).
    • (2006) Nat. Biotechnol. , vol.24 , Issue.9 , pp. 1151-1161
    • Shi, L.1    Reid, L.H.2    Jones, W.D.3
  • 23
    • 78650735473 scopus 로고    scopus 로고
    • The MicroArray Quality Control (MAQC)-II study of common practices for the development and validation of microarray-based predictive models
    • Shi L, Campbell G, Jones WD et al. The MicroArray Quality Control (MAQC)-II study of common practices for the development and validation of microarray-based predictive models. Nat. Biotechnol. 28(8), 827-838 (2010).
    • (2010) Nat. Biotechnol. , vol.28 , Issue.8 , pp. 827-838
    • Shi, L.1    Campbell, G.2    Jones, W.D.3
  • 24
    • 66149192669 scopus 로고    scopus 로고
    • How to map billions of short reads onto genomes
    • Trapnell C, Salzberg SL. How to map billions of short reads onto genomes. Nat. Biotechnol. 27(5), 455-457 (2009).
    • (2009) Nat. Biotechnol. , vol.27 , Issue.5 , pp. 455-457
    • Trapnell, C.1    Salzberg, S.L.2
  • 26
    • 0036226603 scopus 로고    scopus 로고
    • BLAT - The BLAST-like alignment tool
    • Kent WJ. BLAT - the BLAST-like alignment tool. Genome Res. 12(4), 656-664 (2002).
    • (2002) Genome Res. , vol.12 , Issue.4 , pp. 656-664
    • Kent, W.J.1
  • 27
    • 55549097836 scopus 로고    scopus 로고
    • Mapping short DNA sequencing reads and calling variants using mapping quality scores
    • Li H, Ruan J, Durbin R. Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res. 18(11), 1851-1858 (2008).
    • (2008) Genome Res. , vol.18 , Issue.11 , pp. 1851-1858
    • Li, H.1    Ruan, J.2    Durbin, R.3
  • 28
    • 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 SL. Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Biol. 10(3), R25 (2009).
    • (2009) Genome Biol. , vol.10 , Issue.3
    • Langmead, B.1    Trapnell, C.2    Pop, M.3    Salzberg, S.L.4
  • 29
    • 65449136284 scopus 로고    scopus 로고
    • TopHat: Discovering splice junctions with RNA-Seq
    • Trapnell C, Pachter L, Salzberg SL. TopHat: discovering splice junctions with RNA-Seq. Bioinformatics 25(9), 1105-1111 (2009).
    • (2009) Bioinformatics , vol.25 , Issue.9 , pp. 1105-1111
    • Trapnell, C.1    Pachter, L.2    Salzberg, S.L.3
  • 30
    • 77952123055 scopus 로고    scopus 로고
    • Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation
    • Trapnell C, Williams BA, Pertea G et al. Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation. Nat. Biotechnol. 28(5), 511-515 (2010).
    • (2010) Nat. Biotechnol. , vol.28 , Issue.5 , pp. 511-515
    • Trapnell, C.1    Williams, B.A.2    Pertea, G.3
  • 31
    • 77952148742 scopus 로고    scopus 로고
    • Ab initio reconstruction of cell type-specific transcriptomes in mouse reveals the conserved multi-exonic structure of lincRNAs
    • Guttman M, Garber M, Levin JZ et al. Ab initio reconstruction of cell type-specific transcriptomes in mouse reveals the conserved multi-exonic structure of lincRNAs. Nat. Biotechnol. 28(5), 503-510 (2010).
    • (2010) Nat. Biotechnol. , vol.28 , Issue.5 , pp. 503-510
    • Guttman, M.1    Garber, M.2    Levin, J.Z.3
  • 32
    • 39049156065 scopus 로고    scopus 로고
    • Short read fragment assembly of bacterial genomes
    • Chaisson MJ, Pevzner PA. Short read fragment assembly of bacterial genomes. Genome Res. 18(2), 324-330 (2008).
    • (2008) Genome Res. , vol.18 , Issue.2 , pp. 324-330
    • Chaisson, M.J.1    Pevzner, P.A.2
  • 33
    • 77954319020 scopus 로고    scopus 로고
    • Sequencing of 50 human exomes reveals adaptation to high altitude
    • Yi X, Liang Y, Huerta-Sanchez E et al. Sequencing of 50 human exomes reveals adaptation to high altitude. Science 329(5987), 75-78 (2010).
    • (2010) Science , vol.329 , Issue.5987 , pp. 75-78
    • Yi, X.1    Liang, Y.2    Huerta-Sanchez, E.3
  • 34
    • 77950460661 scopus 로고    scopus 로고
    • Understanding mechanisms underlying human gene expression variation with RNA sequencing
    • One of the first quantitative trait locus expression studies using NGS technology
    • Pickrell JK, Marioni JC, Pai AA et al. Understanding mechanisms underlying human gene expression variation with RNA sequencing. Nature 464(7289), 768-772 (2010). One of the first quantitative trait locus expression studies using NGS technology.
    • (2010) Nature , vol.464 , Issue.7289 , pp. 768-772
    • Pickrell, J.K.1    Marioni, J.C.2    Pai, A.A.3
  • 35
    • 75949093653 scopus 로고    scopus 로고
    • Identifiability of isoform deconvolution from junction arrays and RNA-Seq
    • Hiller D, Jiang H, Xu W, Wong WH. Identifiability of isoform deconvolution from junction arrays and RNA-Seq. Bioinformatics 25(23), 3056-3059 (2009).
    • (2009) Bioinformatics , vol.25 , Issue.23 , pp. 3056-3059
    • Hiller, D.1    Jiang, H.2    Xu, W.3    Wong, W.H.4
  • 36
    • 57449100870 scopus 로고    scopus 로고
    • Design and analysis of ChIP-seq experiments for DNA-binding proteins
    • Kharchenko PV, Tolstorukov MY, Park PJ. Design and analysis of ChIP-seq experiments for DNA-binding proteins. Nat. Biotechnol. 26(12), 1351-1359 (2008).
    • (2008) Nat. Biotechnol. , vol.26 , Issue.12 , pp. 1351-1359
    • Kharchenko, P.V.1    Tolstorukov, M.Y.2    Park, P.J.3
  • 37
    • 57749195712 scopus 로고    scopus 로고
    • RNA-Seq: A revolutionary tool for transcriptomics
    • Wang Z, Gerstein M, Snyder M. RNA-Seq: a revolutionary tool for transcriptomics. Nat. Rev. Genet. 10(1), 57-63 (2009).
    • (2009) Nat. Rev. Genet. , vol.10 , Issue.1 , pp. 57-63
    • Wang, Z.1    Gerstein, M.2    Snyder, M.3
  • 38
    • 70349312354 scopus 로고    scopus 로고
    • ChIP-Seq: Advantages and challenges of a maturing technology
    • Park PJ. ChIP-Seq: advantages and challenges of a maturing technology. Nat. Rev. Genet. 10 (10), 669-680 (2009).
    • (2009) Nat. Rev. Genet. , vol.10 , Issue.10 , pp. 669-680
    • Park, P.J.1
  • 39
    • 77951094805 scopus 로고    scopus 로고
    • Big science: The cancer genome challenge
    • Ledford H. Big science: the cancer genome challenge. Nature 464(7291), 972-974 (2010).
    • (2010) Nature , vol.464 , Issue.7291 , pp. 972-974
    • Ledford, H.1
  • 40
    • 73949109877 scopus 로고    scopus 로고
    • Our changing view of the genomic landscape of cancer
    • Very nice review of cancer genomic research in the post-genomics era
    • Bell DW. Our changing view of the genomic landscape of cancer. J. Pathol. 220(2), 231-243 (2010). Very nice review of cancer genomic research in the post-genomics era.
    • (2010) J. Pathol. , vol.220 , Issue.2 , pp. 231-243
    • Bell, D.W.1
  • 41
    • 44249120307 scopus 로고    scopus 로고
    • Part I: Milestones in personalised medicine - Imatinib
    • Gambacorti-Passerini C. Part I: milestones in personalised medicine - imatinib. Lancet Oncol. 9(6), 600 (2008).
    • (2008) Lancet Oncol. , vol.9 , Issue.6 , pp. 600
    • Gambacorti-Passerini, C.1
  • 42
    • 45849128985 scopus 로고    scopus 로고
    • Part II: Milestones in personalised medicine - Trastuzumab
    • Gelmon K. Part II: milestones in personalised medicine - trastuzumab. Lancet Oncol. 9(7), 698 (2008).
    • (2008) Lancet Oncol. , vol.9 , Issue.7 , pp. 698
    • Gelmon, K.1
  • 43
    • 33947393565 scopus 로고    scopus 로고
    • Mapping the cancer genome. Pinpointing the genes involved in cancer will help chart a new course across the complex landscape of human malignancies
    • Collins FS, Barker AD. Mapping the cancer genome. Pinpointing the genes involved in cancer will help chart a new course across the complex landscape of human malignancies. Sci. Am. 296(3), 50-57 (2007).
    • (2007) Sci. Am. , vol.296 , Issue.3 , pp. 50-57
    • Collins, F.S.1    Barker, A.D.2
  • 44
    • 77953006634 scopus 로고    scopus 로고
    • The mutation spectrum revealed by paired genome sequences from a lung cancer patient
    • Lee W, Jiang Z, Liu J et al. The mutation spectrum revealed by paired genome sequences from a lung cancer patient. Nature 465(7297), 473-477 (2010).
    • (2010) Nature , vol.465 , Issue.7297 , pp. 473-477
    • Lee, W.1    Jiang, Z.2    Liu, J.3
  • 45
    • 74449093973 scopus 로고    scopus 로고
    • A comprehensive catalogue of somatic mutations from a human cancer genome
    • Pleasance ED, Cheetham RK, Stephens PJ et al. A comprehensive catalogue of somatic mutations from a human cancer genome. Nature 463(7278), 191-196 (2010).
    • (2010) Nature , vol.463 , Issue.7278 , pp. 191-196
    • Pleasance, E.D.1    Cheetham, R.K.2    Stephens, P.J.3
  • 46
    • 70349969478 scopus 로고    scopus 로고
    • Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution
    • Shah SP, Morin RD, Khattra J et al. Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution. Nature 461(7265), 809-813 (2009).
    • (2009) Nature , vol.461 , Issue.7265 , pp. 809-813
    • Shah, S.P.1    Morin, R.D.2    Khattra, J.3
  • 47
    • 73149123343 scopus 로고    scopus 로고
    • Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
    • Important study illustrating the utility of the exome capture and NGS in genetic diagnosis
    • Choi M, Scholl UI, Ji WZ et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc. Natl Acad. Sci. USA 106(45), 19096-19101 (2009). Important study illustrating the utility of the exome capture and NGS in genetic diagnosis.
    • (2009) Proc. Natl Acad. Sci. USA , vol.106 , Issue.45 , pp. 19096-19101
    • Choi, M.1    Scholl, U.I.2    Ji, W.Z.3
  • 48
    • 78049336905 scopus 로고    scopus 로고
    • Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
    • Bilgüvar K, Öztürk AK, Louvi A et al. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 467(7312), 207-210 (2010).
    • (2010) Nature , vol.467 , Issue.7312 , pp. 207-210
    • Bilgüvar, K.1    Öztürk, A.K.2    Louvi, A.3
  • 49
    • 77950633122 scopus 로고    scopus 로고
    • Integrative analysis of the melanoma transcriptome
    • Berger MF, Levin JZ, Vijayendran K et al. Integrative analysis of the melanoma transcriptome. Genome Res. 20(4), 413-427 (2010).
    • (2010) Genome Res. , vol.20 , Issue.4 , pp. 413-427
    • Berger, M.F.1    Levin, J.Z.2    Vijayendran, K.3
  • 50
    • 64149118874 scopus 로고    scopus 로고
    • Next-generation sequencing of plasma/serum DNA: An emerging research and molecular diagnostic tool
    • Lo YM, Chiu RW. Next-generation sequencing of plasma/serum DNA: an emerging research and molecular diagnostic tool. Clin. Chem. 55(4), 607-608 (2009).
    • (2009) Clin. Chem. , vol.55 , Issue.4 , pp. 607-608
    • Lo, Y.M.1    Chiu, R.W.2
  • 51
    • 33845799282 scopus 로고    scopus 로고
    • Prenatal diagnosis: Progress through plasma nucleic acids
    • Dennis Lo YM, Chiu RW. Prenatal diagnosis: progress through plasma nucleic acids. Nat. Rev. Genet. 8(1), 71-77 (2007).
    • (2007) Nat. Rev. Genet. , vol.8 , Issue.1 , pp. 71-77
    • Dennis Lo, Y.M.1    Chiu, R.W.2
  • 52
    • 51349141191 scopus 로고    scopus 로고
    • Circulating mutant DNA to assess tumor dynamics
    • Diehl F, Schmidt K, Choti MA et al. Circulating mutant DNA to assess tumor dynamics. Nat. Med. 14(9), 985-990 (2008).
    • (2008) Nat. Med. , vol.14 , Issue.9 , pp. 985-990
    • Diehl, F.1    Schmidt, K.2    Choti, M.A.3
  • 53
    • 58149490683 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
    • Chiu RW, Chan KC, Gao Y et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc. Natl Acad. Sci. USA 105(51), 20458-20463 (2008).
    • (2008) Proc. Natl Acad. Sci. USA , vol.105 , Issue.51 , pp. 20458-20463
    • Chiu, R.W.1    Chan, K.C.2    Gao, Y.3
  • 54
    • 55849124028 scopus 로고    scopus 로고
    • Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
    • Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc. Natl Acad. Sci. USA 105(42), 16266-16271 (2008).
    • (2008) Proc. Natl Acad. Sci. USA , vol.105 , Issue.42 , pp. 16266-16271
    • Fan, H.C.1    Blumenfeld, Y.J.2    Chitkara, U.3    Hudgins, L.4    Quake, S.R.5
  • 55
    • 77649210579 scopus 로고    scopus 로고
    • Digital fetal aneuploidy diagnosis by next-generation sequencing
    • Voelkerding KV, Lyon E. Digital fetal aneuploidy diagnosis by next-generation sequencing. Clin. Chem. 56(3), 336-338 (2010).
    • (2010) Clin. Chem. , vol.56 , Issue.3 , pp. 336-338
    • Voelkerding, K.V.1    Lyon, E.2
  • 56
    • 38049073696 scopus 로고    scopus 로고
    • Massively parallel bisulphite pyrosequencing reveals the molecular complexity of breast cancer-associated cytosine-methylation patterns obtained from tissue and serum DNA
    • Korshunova Y, Maloney RK, Lakey N et al. Massively parallel bisulphite pyrosequencing reveals the molecular complexity of breast cancer-associated cytosine-methylation patterns obtained from tissue and serum DNA. Genome Res. 18(1), 19-29 (2008).
    • (2008) Genome Res. , vol.18 , Issue.1 , pp. 19-29
    • Korshunova, Y.1    Maloney, R.K.2    Lakey, N.3
  • 57
    • 77949507153 scopus 로고    scopus 로고
    • RNA-Seq gene expression estimation with read mapping uncertainty
    • Li B, Ruotti V, Stewart RM, Thomson JA, Dewey CN. RNA-Seq gene expression estimation with read mapping uncertainty. Bioinformatics 26(4), 493-500 (2010).
    • (2010) Bioinformatics , vol.26 , Issue.4 , pp. 493-500
    • Li, B.1    Ruotti, V.2    Stewart, R.M.3    Thomson, J.A.4    Dewey, C.N.5
  • 58
    • 76549107455 scopus 로고    scopus 로고
    • Leveraging skewed transcript abundance by RNA-Seq to increase the genomic depth of the tree of life
    • Hittinger CT, Johnston M, Tossberg JT, Rokas A. Leveraging skewed transcript abundance by RNA-Seq to increase the genomic depth of the tree of life. Proc. Natl Acad. Sci. USA. 107(4), 1476-1481 (2010).
    • (2010) Proc. Natl Acad. Sci. USA , vol.107 , Issue.4 , pp. 1476-1481
    • Hittinger, C.T.1    Johnston, M.2    Tossberg, J.T.3    Rokas, A.4
  • 59
    • 62249133709 scopus 로고    scopus 로고
    • Chromatin signature reveals over a thousand highly conserved large noncoding RNAs in mammals
    • Guttman M, Amit I, Garber M et al. Chromatin signature reveals over a thousand highly conserved large noncoding RNAs in mammals. Nature 458(7235), 223-227 (2009).
    • (2009) Nature , vol.458 , Issue.7235 , pp. 223-227
    • Guttman, M.1    Amit, I.2    Garber, M.3
  • 60
    • 66349122954 scopus 로고    scopus 로고
    • Genome-wide identification of human RNA editing sites by parallel DNA capturing and sequencing
    • Li JB, Levanon EY, Yoon JK et al. Genome-wide identification of human RNA editing sites by parallel DNA capturing and sequencing. Science 324(5931), 1210-1213 (2009).
    • (2009) Science , vol.324 , Issue.5931 , pp. 1210-1213
    • Li, J.B.1    Levanon, E.Y.2    Yoon, J.K.3
  • 61
    • 72849106592 scopus 로고    scopus 로고
    • RNA processing and its regulation: Global insights into biological networks
    • Licatalosi DD, Darnell RB. RNA processing and its regulation: global insights into biological networks. Nat. Rev. Genet. 11(1), 75-87 (2010).
    • (2010) Nat. Rev. Genet. , vol.11 , Issue.1 , pp. 75-87
    • Licatalosi, D.D.1    Darnell, R.B.2
  • 62
    • 72849114230 scopus 로고    scopus 로고
    • Prokaryotic transcriptomics: A new view on regulation, physiology and pathogenicity
    • Sorek R, Cossart P. Prokaryotic transcriptomics: a new view on regulation, physiology and pathogenicity. Nat. Rev. Genet. 11(1), 9-16 (2010).
    • (2010) Nat. Rev. Genet. , vol.11 , Issue.1 , pp. 9-16
    • Sorek, R.1    Cossart, P.2
  • 63
    • 77951589703 scopus 로고    scopus 로고
    • Clinical assessment incorporating a personal genome
    • Pivotal study that demonstrated the potential clinical applications of NGS technologies
    • Ashley EA, Butte AJ, Wheeler MT et al. Clinical assessment incorporating a personal genome. Lancet 375(9725), 1525-1535 (2010). Pivotal study that demonstrated the potential clinical applications of NGS technologies.
    • (2010) Lancet , vol.375 , Issue.9725 , pp. 1525-1535
    • Ashley, E.A.1    Butte, A.J.2    Wheeler, M.T.3
  • 64
    • 70249089090 scopus 로고    scopus 로고
    • Single-molecule sequencing of an individual human genome
    • Pushkarev D, Neff NF, Quake SR. Single-molecule sequencing of an individual human genome. Nat. Biotechnol. 27(9), 847-852 (2009).
    • (2009) Nat. Biotechnol. , vol.27 , Issue.9 , pp. 847-852
    • Pushkarev, D.1    Neff, N.F.2    Quake, S.R.3
  • 65
    • 69549116107 scopus 로고    scopus 로고
    • BreakDancer: An algorithm for highresolution mapping of genomic structural variation
    • Chen K, Wallis JW, McLellan MD et al. BreakDancer: an algorithm for highresolution mapping of genomic structural variation. Nat. Methods 6(9), 677-681 (2009).
    • (2009) Nat. Methods , vol.6 , Issue.9 , pp. 677-681
    • Chen, K.1    Wallis, J.W.2    McLellan, M.D.3
  • 66
    • 60149112271 scopus 로고    scopus 로고
    • PeakSeq enables systematic scoring of ChIP-seq experiments relative to controls
    • Rozowsky J, Euskirchen G, Auerbach RK et al. PeakSeq enables systematic scoring of ChIP-seq experiments relative to controls. Nat. Biotechnol. 27(1), 66-75 (2009).
    • (2009) Nat. Biotechnol. , vol.27 , Issue.1 , pp. 66-75
    • Rozowsky, J.1    Euskirchen, G.2    Auerbach, R.K.3
  • 67
    • 69849115727 scopus 로고    scopus 로고
    • PIQA: Pipeline for Illumina G1 genome analyzer data quality assessment
    • Martinez-Alcantara A, Ballesteros E, Feng C et al. PIQA: pipeline for Illumina G1 genome analyzer data quality assessment. Bioinformatics 25(18), 2438-2439 (2009).
    • (2009) Bioinformatics , vol.25 , Issue.18 , pp. 2438-2439
    • Martinez-Alcantara, A.1    Ballesteros, E.2    Feng, C.3
  • 68
    • 77955433415 scopus 로고    scopus 로고
    • Savant: Genome browser for high-throughput sequencing data
    • Fiume M, Williams V, Brook A, Brudno M. Savant: genome browser for high-throughput sequencing data. Bioinformatics 26(16), 1938-1944 (2010).
    • (2010) Bioinformatics , vol.26 , Issue.16 , pp. 1938-1944
    • Fiume, M.1    Williams, V.2    Brook, A.3    Brudno, M.4
  • 69
    • 53749083993 scopus 로고    scopus 로고
    • SeqMap: Mapping massive amount of oligonucleotides to the genome
    • Jiang H, Wong WH. SeqMap: mapping massive amount of oligonucleotides to the genome. Bioinformatics 24(20), 2395-2396 (2008).
    • (2008) Bioinformatics , vol.24 , Issue.20 , pp. 2395-2396
    • Jiang, H.1    Wong, W.H.2
  • 70
    • 70349866687 scopus 로고    scopus 로고
    • ShortRead: A bioconductor package for input, quality assessment and exploration of high-throughput sequence data
    • Morgan M, Anders S, Lawrence M et al. ShortRead: a bioconductor package for input, quality assessment and exploration of high-throughput sequence data. Bioinformatics 25(19), 2607-2608 (2009).
    • (2009) Bioinformatics , vol.25 , Issue.19 , pp. 2607-2608
    • Morgan, M.1    Anders, S.2    Lawrence, M.3
  • 71
    • 58049195681 scopus 로고    scopus 로고
    • Slider - Maximum use of probability information for alignment of short sequence reads and SNP detection
    • Malhis N, Butterfield YS, Ester M, Jones SJ. Slider - maximum use of probability information for alignment of short sequence reads and SNP detection. Bioinformatics 25(1), 6-13 (2009).
    • (2009) Bioinformatics , vol.25 , Issue.1 , pp. 6-13
    • Malhis, N.1    Butterfield, Y.S.2    Ester, M.3    Jones, S.J.4
  • 72
    • 77954202204 scopus 로고    scopus 로고
    • VARiD: A variation detection framework for color-space and letter-space platforms
    • Dalca AV, Rumble SM, Levy S, Brudno M. VARiD: a variation detection framework for color-space and letter-space platforms. Bioinformatics 26(12), i343-i349 (2010).
    • (2010) Bioinformatics , vol.26 , Issue.12
    • Dalca, A.V.1    Rumble, S.M.2    Levy, S.3    Brudno, M.4
  • 75
    • 79953817303 scopus 로고    scopus 로고
    • HiSeq
    • HiSeq 2000 www.illumina.com/systems/hiseq-2000.ilmn
    • (2000)
  • 76
    • 79953815574 scopus 로고    scopus 로고
    • Pacific Biosciences www.pacificbiosciences.com
  • 77
    • 79953819160 scopus 로고    scopus 로고
    • VisiGen Biotechnologies http://visigenbio.com
  • 78
    • 79953806231 scopus 로고    scopus 로고
    • Sequenom www.sequenom.com
  • 79
    • 79953809635 scopus 로고    scopus 로고
    • Complete Genomics www.completegenomics.com
  • 80
    • 79953810313 scopus 로고    scopus 로고
    • Oxford Nanopore Technologies www.nanoporetech.com
  • 81
    • 79953822772 scopus 로고    scopus 로고
    • Center for Computational Genetics at Harvard Medical School
    • Center for Computational Genetics at Harvard Medical School http://arep.med.harvard.edu/gmc
  • 82
    • 79953828386 scopus 로고    scopus 로고
    • MicroArray Quality Control
    • MicroArray Quality Control www.fda.gov/MicroarrayQC/


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.