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Volumn 11, Issue 5, 2010, Pages 484-498

Challenges of sequencing human genomes

Author keywords

Human genome; Massively parallel sequencing; Next generation sequencing; Short read alignment; Variant detection; Whole genome sequencing

Indexed keywords

COMPUTER PROGRAM; DNA SEQUENCE; GENETIC VARIABILITY; GENETICS; HUMAN; HUMAN GENOME; INSTRUMENTATION; METHODOLOGY; NEOPLASM; NUCLEOTIDE SEQUENCE; REVIEW;

EID: 77957272020     PISSN: 14675463     EISSN: 14774054     Source Type: Journal    
DOI: 10.1093/bib/bbq016     Document Type: Review
Times cited : (119)

References (71)
  • 1
    • 39649117755 scopus 로고    scopus 로고
    • The impact of next-generation sequencing technology on genetics
    • Mardis ER. The impact of next-generation sequencing technology on genetics. Trends Genet 2008;24(3):133-41.
    • (2008) Trends Genet , vol.24 , Issue.3 , pp. 133-141
    • Mardis, E.R.1
  • 2
    • 69749124820 scopus 로고    scopus 로고
    • The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group
    • Ahn SM, Kim TH, Lee S, et al. The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group. Genome Res 2009;19(9):1622-9.
    • (2009) Genome Res , vol.19 , Issue.9 , pp. 1622-1629
    • Ahn, S.M.1    Kim, T.H.2    Lee, S.3
  • 3
    • 55549089660 scopus 로고    scopus 로고
    • Accurate whole human genome sequencing using reversible terminator chemistry
    • Bentley DR, Balasubramanian S, Swerdlow HP, et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature 2008;456(7218):53-9.
    • (2008) Nature , vol.456 , Issue.7218 , pp. 53-59
    • Bentley, D.R.1    Balasubramanian, S.2    Swerdlow, H.P.3
  • 4
    • 74949138753 scopus 로고    scopus 로고
    • Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays
    • Drmanac R, Sparks AB, Callow MJ, et al. Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science 327(5961):78-81.
    • Science , vol.327 , Issue.5961 , pp. 78-81
    • Drmanac, R.1    Sparks, A.B.2    Callow, M.J.3
  • 5
    • 69249232047 scopus 로고    scopus 로고
    • A highly annotated whole-genome sequence of a Korean individual
    • Kim JI, Ju YS, Park H, et al. A highly annotated whole-genome sequence of a Korean individual. Nature 2009; 460(7258):1011-5.
    • (2009) Nature , vol.460 , Issue.7258 , pp. 1011-1015
    • Kim, J.I.1    Ju, Y.S.2    Park, H.3
  • 6
    • 69749090013 scopus 로고    scopus 로고
    • Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding
    • McKernan KJ, Peckham HE, Costa GL, etal. Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res 2009;19(9):1527-41.
    • (2009) Genome Res , vol.19 , Issue.9 , pp. 1527-1541
    • McKernan, K.J.1    Peckham, H.E.2    Costa, G.L.3
  • 7
    • 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 2009;27(9):847-52.
    • (2009) Nat Biotechnol , vol.27 , Issue.9 , pp. 847-852
    • Pushkarev, D.1    Neff, N.F.2    Quake, S.R.3
  • 8
    • 55549097849 scopus 로고    scopus 로고
    • The diploid genome sequence of an Asian individual
    • Wang J, Wang W, Li R, et al. The diploid genome sequence of an Asian individual. Nature 2008;456(7218):60-5.
    • (2008) Nature , vol.456 , Issue.7218 , pp. 60-65
    • Wang, J.1    Wang, W.2    Li, R.3
  • 9
    • 42249087308 scopus 로고    scopus 로고
    • The complete genome of an individual by massively parallel DNA sequen-cing
    • Wheeler DA, Srinivasan M, Egholm M, et al. The complete genome of an individual by massively parallel DNA sequen-cing. Nature 2008;452(7189):872-6.
    • (2008) Nature , vol.452 , Issue.7189 , pp. 872-876
    • Wheeler, D.A.1    Srinivasan, M.2    Egholm, M.3
  • 10
    • 77249155642 scopus 로고    scopus 로고
    • Complete Khoisan and Bantu genomes from southern Africa
    • Schuster SC, Miller W, Ratan A, et al. Complete Khoisan and Bantu genomes from southern Africa. Nature 2010; 463(7283):943-7.
    • (2010) Nature , vol.463 , Issue.7283 , pp. 943-947
    • Schuster, S.C.1    Miller, W.2    Ratan, A.3
  • 11
    • 33746921634 scopus 로고    scopus 로고
    • The personal genome project 2005
    • Church GM. The personal genome project. Mol Syst Biol 2005;1:2005.0030.
    • (2005) Mol Syst Biol , vol.1 , pp. 0030
    • Church, G.M.1
  • 12
    • 55549101623 scopus 로고    scopus 로고
    • DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
    • Ley TJ, Mardis ER, Ding L, et al. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature 2008;456(7218):66-72.
    • (2008) Nature , vol.456 , Issue.7218 , pp. 66-72
    • Ley, T.J.1    Mardis, E.R.2    Ding, L.3
  • 13
    • 70149093912 scopus 로고    scopus 로고
    • Recurring mutations found by sequencing an acute myeloid leukemia genome
    • Mardis ER, Ding L, Dooling DJ, et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. NEnglJMed 2009;361(11):1058-66.
    • (2009) NEnglJMed , vol.361 , Issue.11 , pp. 1058-1066
    • Mardis, E.R.1    Ding, L.2    Dooling, D.J.3
  • 14
    • 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 2010;463(7278):191-6.
    • (2010) Nature , vol.463 , Issue.7278 , pp. 191-196
    • Pleasance, E.D.1    Cheetham, R.K.2    Stephens, P.J.3
  • 15
    • 74449085934 scopus 로고    scopus 로고
    • A small-cell lung cancer genome with complex signatures of tobacco exposure
    • Pleasance ED, Stephens PJ, O'Meara S, et al. A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature 2010;463(7278):184-90.
    • (2010) Nature , vol.463 , Issue.7278 , pp. 184-190
    • Pleasance, E.D.1    Stephens, P.J.2    O'Meara, S.3
  • 16
    • 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 2009;461(7265):809-13.
    • (2009) Nature , vol.461 , Issue.7265 , pp. 809-813
    • Shah, S.P.1    Morin, R.D.2    Khattra, J.3
  • 17
    • 77951139631 scopus 로고    scopus 로고
    • Genome remodelling in a basal-like breast cancer metastasis and xenograft
    • Ding L, Ellis MJ, Li S, et al. Genome remodelling in a basal-like breast cancer metastasis and xenograft. Nature 2010;464(7291):999-1005.
    • (2010) Nature , vol.464 , Issue.7291 , pp. 999-1005
    • Ding, L.1    Ellis, M.J.2    Li, S.3
  • 18
    • 0035173378 scopus 로고    scopus 로고
    • dbSNP: the NCBI database of genetic variation
    • Sherry ST, Ward MH, Kholodov M, et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001; 29(1):308-11.
    • (2001) Nucleic Acids Res , vol.29 , Issue.1 , pp. 308-311
    • Sherry, S.T.1    Ward, M.H.2    Kholodov, M.3
  • 19
    • 77649121204 scopus 로고    scopus 로고
    • Personal genome sequencing: current approaches and challenges
    • Snyder M, Du J, Gerstein M. Personal genome sequencing: current approaches and challenges. Genes Dev 24(5):423-31.
    • Genes Dev , vol.24 , Issue.5 , pp. 423-431
    • Snyder, M.1    Du, J.2    Gerstein, M.3
  • 20
    • 76749101197 scopus 로고    scopus 로고
    • U87MG decoded: the genomic sequence of a cytogenetically aber-rant human cancer cell line
    • Clark MJ, Homer N, O'Connor BD, et al. U87MG decoded: the genomic sequence of a cytogenetically aber-rant human cancer cell line. PLoS Genet 2010;6(1): e1000832.
    • (2010) PLoS Genet , vol.6 , Issue.1
    • Clark, M.J.1    Homer, N.2    O'Connor, B.D.3
  • 21
    • 77951799158 scopus 로고    scopus 로고
    • Analysis of genetic inheritance in a family quartet by whole-genome sequencing
    • Roach JC, Glusman G, Smit AF, et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 2010;328(5978):636-9.
    • (2010) Science , vol.328 , Issue.5978 , pp. 636-639
    • Roach, J.C.1    Glusman, G.2    Smit, A.F.3
  • 22
    • 77950475726 scopus 로고    scopus 로고
    • Whole-genome sequencing in a patient with charcot-marie-tooth neuropathy
    • Lupski JR, Reid JG, Gonzaga-Jauregui C, et al. Whole-genome sequencing in a patient with charcot-marie-tooth neuropathy. NEnglJMed 2010;362(13):1181-91.
    • (2010) N Engl J Med , vol.362 , Issue.13 , pp. 1181-1191
    • Lupski, J.R.1    Reid, J.G.2    Gonzaga-Jauregui, C.3
  • 24
    • 77449121614 scopus 로고    scopus 로고
    • Target-enrichment strategies for next-generation sequencing
    • Mamanova L, Coffey AJ, Scott CE, et al. Target-enrichment strategies for next-generation sequencing. Nat Methods 2010;7(2):111-8.
    • (2010) Nat Methods , vol.7 , Issue.2 , pp. 111-118
    • Mamanova, L.1    Coffey, A.J.2    Scott, C.E.3
  • 25
    • 59849113821 scopus 로고    scopus 로고
    • Solution hybrid selection with ultra-long oligonucleotides for mas-sively parallel targeted sequencing
    • Gnirke A, Melnikov A, Maguire J, et al. Solution hybrid selection with ultra-long oligonucleotides for mas-sively parallel targeted sequencing. Nat Biotechnol 2009; 27(2):182-9.
    • (2009) Nat Biotechnol , vol.27 , Issue.2 , pp. 182-189
    • Gnirke, A.1    Melnikov, A.2    Maguire, J.3
  • 26
    • 35748951614 scopus 로고    scopus 로고
    • Direct selection of human genomic loci by microarray hybridization
    • Albert TJ, Molla MN, Muzny DM, et al. Direct selection of human genomic loci by microarray hybridization. Nat Methods 2007;4(11):903-5.
    • (2007) Nat Methods , vol.4 , Issue.11 , pp. 903-905
    • Albert, T.J.1    Molla, M.N.2    Muzny, D.M.3
  • 28
    • 36549021060 scopus 로고    scopus 로고
    • Genome-wide in situ exon capture for selective resequencing
    • Hodges E, Xuan Z, Balija V, et al. Genome-wide in situ exon capture for selective resequencing. Nat Genet 2007; 39(12):1522-7.
    • (2007) Nat Genet , vol.39 , Issue.12 , pp. 1522-1527
    • Hodges, E.1    Xuan, Z.2    Balija, V.3
  • 29
    • 35748959649 scopus 로고    scopus 로고
    • Microarray-based genomic selection for high-throughput resequencing
    • Okou DT, Steinberg KM, Middle C, et al. Microarray-based genomic selection for high-throughput resequencing. Nat Methods 2007;4(11):907-9.
    • (2007) Nat Methods , vol.4 , Issue.11 , pp. 907-909
    • Okou, D.T.1    Steinberg, K.M.2    Middle, C.3
  • 30
    • 70249111091 scopus 로고    scopus 로고
    • Targeted capture and massively parallel sequencing of 12 human exomes
    • Ng SB, Turner EH, Robertson PD, et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009;461(7261):272-6.
    • (2009) Nature , vol.461 , Issue.7261 , pp. 272-276
    • Ng, S.B.1    Turner, E.H.2    Robertson, P.D.3
  • 31
    • 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 2009; 10(1):57-63.
    • (2009) Nat Rev Genet , vol.10 , Issue.1 , pp. 57-63
    • Wang, Z.1    Gerstein, M.2    Snyder, M.3
  • 32
    • 67749132423 scopus 로고    scopus 로고
    • Argonaute HITS-CLIP decodes microRNA-mRNA interaction maps
    • Chi SW, Zang JB, Mele A, et al. Argonaute HITS-CLIP decodes microRNA-mRNA interaction maps. Nature 2009; 460(7254):479-86.
    • (2009) Nature , vol.460 , Issue.7254 , pp. 479-486
    • Chi, S.W.1    Zang, J.B.2    Mele, A.3
  • 33
    • 56549105330 scopus 로고    scopus 로고
    • HITS-CLIP yields genome-wide insights into brain alternative RNA processing
    • Licatalosi DD, Mele A, Fak JJ, et al. HITS-CLIP yields genome-wide insights into brain alternative RNA processing. Nature 2008;456(7221):464-9.
    • (2008) Nature , vol.456 , Issue.7221 , pp. 464-469
    • Licatalosi, D.D.1    Mele, A.2    Fak, J.J.3
  • 34
    • 43149115851 scopus 로고    scopus 로고
    • Velvet: algorithms for de novo short read assembly using de Bruijn graphs
    • Zerbino DR, Birney E. Velvet: algorithms for de novo short read assembly using de Bruijn graphs. Genome Res 2008;18(5):821-9.
    • (2008) Genome Res , vol.18 , Issue.5 , pp. 821-829
    • Zerbino, D.R.1    Birney, E.2
  • 35
    • 75649147867 scopus 로고    scopus 로고
    • A new strategy for genome assembly using short sequence reads and reduced representation libraries
    • Young AL, Abaan HO, Zerbino D, et al. A new strategy for genome assembly using short sequence reads and reduced representation libraries. Genome Res 2010;20(2):249-56.
    • (2010) Genome Res , vol.20 , Issue.2 , pp. 249-256
    • Young, A.L.1    Abaan, H.O.2    Zerbino, D.3
  • 36
    • 75649124547 scopus 로고    scopus 로고
    • De novo assembly of human genomes with massively parallel short read sequencing
    • Li R, Zhu H, Ruan J, et al. De novo assembly of human genomes with massively parallel short read sequencing. Genome Res 2010;20(2):265-72.
    • (2010) Genome Res , vol.20 , Issue.2 , pp. 265-272
    • Li, R.1    Zhu, H.2    Ruan, J.3
  • 37
    • 66449136667 scopus 로고    scopus 로고
    • ABySS: a parallel assembler for short read sequence data
    • Simpson JT, Wong K, Jackman SD, et al. ABySS: a parallel assembler for short read sequence data. Genome Res 2009; 19(6):1117-23.
    • (2009) Genome Res , vol.19 , Issue.6 , pp. 1117-1123
    • Simpson, J.T.1    Wong, K.2    Jackman, S.D.3
  • 38
    • 43249096825 scopus 로고    scopus 로고
    • A sequence-based survey of the complex structural organization of tumor genomes
    • Raphael BJ, Volik S, Yu P, et al. A sequence-based survey of the complex structural organization of tumor genomes. Genome Biol 2008;9(3):R59.
    • (2008) Genome Biol , vol.9 , Issue.3
    • Raphael, B.J.1    Volik, S.2    Yu, P.3
  • 39
    • 69549116107 scopus 로고    scopus 로고
    • BreakDancer: an algorithm for high-resolution mapping of genomic structural variation
    • Chen K, Wallis JW, McLellan MD, et al. BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. Nat Methods 2009;6(9):677-81.
    • (2009) Nat Methods , vol.6 , Issue.9 , pp. 677-681
    • Chen, K.1    Wallis, J.W.2    McLellan, M.D.3
  • 40
    • 24044455869 scopus 로고    scopus 로고
    • Genome sequencing in microfabricated high-density picolitre reactors
    • Margulies M, Egholm M, Altman WE, et al. Genome sequencing in microfabricated high-density picolitre reactors. Nature 2005;437(7057):376-80.
    • (2005) Nature , vol.437 , Issue.7057 , pp. 376-380
    • Margulies, M.1    Egholm, M.2    Altman, W.E.3
  • 41
    • 0036226603 scopus 로고    scopus 로고
    • BLAT - the BLAST-like alignment tool
    • Kent WJ. BLAT - the BLAST-like alignment tool. Genome Res 2002;12(4):656-64.
    • (2002) Genome Res , vol.12 , Issue.4 , pp. 656-664
    • Kent, W.J.1
  • 42
    • 0034764307 scopus 로고    scopus 로고
    • SSAHA: a fast search method for large DNA databases
    • Ning Z, Cox AJ, Mullikin JC. SSAHA: a fast search method for large DNA databases. Genome Res 2001;11(10):1725-9.
    • (2001) Genome Res , vol.11 , Issue.10 , pp. 1725-1729
    • Ning, Z.1    Cox, A.J.2    Mullikin, J.C.3
  • 43
    • 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 2008;18(11):1851-8.
    • (2008) Genome Res , vol.18 , Issue.11 , pp. 1851-1858
    • Li, H.1    Ruan, J.2    Durbin, R.3
  • 44
    • 62349130698 scopus 로고    scopus 로고
    • Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
    • Langmead B, Trapnell C, Pop M, et al. Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Biol 2009;10(3):R25.
    • (2009) Genome Biol , vol.10 , Issue.3
    • Langmead, B.1    Trapnell, C.2    Pop, M.3
  • 45
    • 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 2009; 25(14):1754-60.
    • (2009) Bioinformatics , vol.25 , Issue.14 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 46
    • 67650711615 scopus 로고    scopus 로고
    • SOAP2: an improved ultrafast tool for short read alignment
    • Li R, Yu C, Li Y, et al. SOAP2: an improved ultrafast tool for short read alignment. Bioinformatics 2009;25(15):1966-7.
    • (2009) Bioinformatics , vol.25 , Issue.15 , pp. 1966-1967
    • Li, R.1    Yu, C.2    Li, Y.3
  • 47
    • 67049159825 scopus 로고    scopus 로고
    • SHRiMP: accu-rate mapping of short color-space reads
    • Rumble SM, Lacroute P, Dalca AV, et al. SHRiMP: accu-rate mapping of short color-space reads. PLoS Comput Biol 2009;5(5):e1000386.
    • (2009) PLoS Comput Biol , vol.5 , Issue.5
    • Rumble, S.M.1    Lacroute, P.2    Dalca, A.V.3
  • 48
    • 70450177746 scopus 로고    scopus 로고
    • BFAST: an alignment tool for large scale genome resequencing
    • Homer N, Merriman B, Nelson SF. BFAST: an alignment tool for large scale genome resequencing. PLoSONE 2009; 4(11):e7767.
    • (2009) PLoSONE , vol.4 , Issue.11
    • Homer, N.1    Merriman, B.2    Nelson, S.F.3
  • 49
    • 77950645212 scopus 로고    scopus 로고
    • Artificial and natural duplicates in pyrosequencing reads of metagenomic data
    • Niu B, Fu L, Sun S, et al. Artificial and natural duplicates in pyrosequencing reads of metagenomic data. BMC Bioinformatics 2010;11(187).
    • (2010) BMC Bioinformatics , vol.11 , Issue.187
    • Niu, B.1    Fu, L.2    Sun, S.3
  • 50
    • 63949083912 scopus 로고    scopus 로고
    • Amplification-free Illumina sequencing-library preparation facilitates improved mapping and assembly of (G+C)-biased genomes
    • Kozarewa I, Ning Z, Quail MA, et al. Amplification-free Illumina sequencing-library preparation facilitates improved mapping and assembly of (G+C)-biased genomes. Nat Methods 2009;6(4):291-5.
    • (2009) Nat Methods , vol.6 , Issue.4 , pp. 291-295
    • Kozarewa, I.1    Ning, Z.2    Quail, M.A.3
  • 51
    • 50649105955 scopus 로고    scopus 로고
    • Comprehensive rese-quence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers
    • Yeager M, Xiao N, Hayes RB, et al. Comprehensive rese-quence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers. Hum Genet 2008;124(2):161-70.
    • (2008) Hum Genet , vol.124 , Issue.2 , pp. 161-170
    • Yeager, M.1    Xiao, N.2    Hayes, R.B.3
  • 52
    • 65449154418 scopus 로고    scopus 로고
    • Method for improving sequence coverage uniformity of targeted genomic intervals amplified by LR-PCR using Illumina GA sequencing-by-synthesis technology
    • Harismendy O, Frazer K. Method for improving sequence coverage uniformity of targeted genomic intervals amplified by LR-PCR using Illumina GA sequencing-by-synthesis technology. Biotechniques 2009;46(3):229-31.
    • (2009) Biotechniques , vol.46 , Issue.3 , pp. 229-231
    • Harismendy, O.1    Frazer, K.2
  • 53
    • 68549104404 scopus 로고    scopus 로고
    • The sequence align-ment map format and SAMtools
    • Li H, Handsaker B, Wysoker A, et al. The sequence align-ment/map format and SAMtools. Bioinformatics 2009; 25(16):2078-9.
    • (2009) Bioinformatics , vol.25 , Issue.16 , pp. 2078-2079
    • Li, H.1    Handsaker, B.2    Wysoker, A.3
  • 54
    • 72849149423 scopus 로고    scopus 로고
    • Searching for SNPs with cloud computing
    • Langmead B, Schatz MC, Lin J, et al. Searching for SNPs with cloud computing. Genome Biol 2009;10(11): R134.
    • (2009) Genome Biol , vol.10 , Issue.11
    • Langmead, B.1    Schatz, M.C.2    Lin, J.3
  • 55
    • 66449114324 scopus 로고    scopus 로고
    • SNP detection for massively parallel whole-genome resequencing
    • Li R, Li Y, Fang X, et al. SNP detection for massively parallel whole-genome resequencing. Genome Res 2009; 19(6):1124-32.
    • (2009) Genome Res , vol.19 , Issue.6 , pp. 1124-1132
    • Li, R.1    Li, Y.2    Fang, X.3
  • 56
    • 75649095276 scopus 로고    scopus 로고
    • A SNP discovery method to assess variant allele probability from next-generation rese-quencing data
    • Shen Y, Wan Z, Coarfa C, et al. A SNP discovery method to assess variant allele probability from next-generation rese-quencing data. Genome Res 20(2):273-80.
    • Genome Res , vol.20 , Issue.2 , pp. 273-280
    • Shen, Y.1    Wan, Z.2    Coarfa, C.3
  • 57
    • 69949122158 scopus 로고    scopus 로고
    • VarScan: variant detection in massively parallel sequencing of individual and pooled samples
    • Koboldt DC, Chen K, Wylie T, et al. VarScan: variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics 2009;25(17):2283-5.
    • (2009) Bioinformatics , vol.25 , Issue.17 , pp. 2283-2285
    • Koboldt, D.C.1    Chen, K.2    Wylie, T.3
  • 58
    • 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 MH, Long Q, et al. Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics 2009;25(21):2865-71.
    • (2009) Bioinformatics , vol.25 , Issue.21 , pp. 2865-2871
    • Ye, K.1    Schulz, M.H.2    Long, Q.3
  • 59
    • 35348988679 scopus 로고    scopus 로고
    • Paired-end map-ping reveals extensive structural variation in the human genome
    • Korbel JO, Urban AE, Affourtit JP, et al. Paired-end map-ping reveals extensive structural variation in the human genome. Science 2007;318(5849):420-6.
    • (2007) Science , vol.318 , Issue.5849 , pp. 420-426
    • Korbel, J.O.1    Urban, A.E.2    Affourtit, J.P.3
  • 60
    • 74049093136 scopus 로고    scopus 로고
    • Nucleotide-resolution analysis of structural variants using BreakSeq and a break-point library
    • Lam HY, Mu XJ, Stutz AM, et al. Nucleotide-resolution analysis of structural variants using BreakSeq and a break-point library. Nat Biotechnol 2010;28(1):47-55.
    • (2010) Nat Biotechnol , vol.28 , Issue.1 , pp. 47-55
    • Lam, H.Y.1    Mu, X.J.2    Stutz, A.M.3
  • 61
    • 70349609345 scopus 로고    scopus 로고
    • Statistical aspects of discerning indel-type structural variation via DNA sequence alignment
    • Wendl MC, Wilson RK. Statistical aspects of discerning indel-type structural variation via DNA sequence alignment. BMC Genomics 2009;10:359.
    • (2009) BMC Genomics , vol.10 , pp. 359
    • Wendl, M.C.1    Wilson, R.K.2
  • 62
    • 42949123953 scopus 로고    scopus 로고
    • Evaluation of paired-end sequencing strategies for detection of genome rearrangements in cancer
    • Bashir A, Volik S, Collins C, et al. Evaluation of paired-end sequencing strategies for detection of genome rearrangements in cancer. PLoS Comput Biol 2008;4(4): e1000051.
    • (2008) PLoS Comput Biol , vol.4 , Issue.4
    • Bashir, A.1    Volik, S.2    Collins, C.3
  • 63
    • 0037934515 scopus 로고    scopus 로고
    • End-sequence profiling: sequence-based analysis of aberrant genomes
    • Volik S, Zhao S, Chin K, et al. End-sequence profiling: sequence-based analysis of aberrant genomes. Proc Natl Acad Sci USA 2003;100(13):7696-701.
    • (2003) Proc Natl Acad Sci USA , vol.100 , Issue.13 , pp. 7696-7701
    • Volik, S.1    Zhao, S.2    Chin, K.3
  • 64
    • 14644402268 scopus 로고    scopus 로고
    • Reconstructing tumor genome architectures
    • Raphael BJ, Volik S, Collins C, et al. Reconstructing tumor genome architectures. Bioinformatics 2003;19(Suppl 2):ii162-71.
    • (2003) Bioinformatics , vol.19 , Issue.SUPPL 2
    • Raphael, B.J.1    Volik, S.2    Collins, C.3
  • 65
    • 44349191457 scopus 로고    scopus 로고
    • Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
    • Campbell PJ, Stephens PJ, Pleasance ED, et al. Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet 2008;40(6):722-9.
    • (2008) Nat Genet , vol.40 , Issue.6 , pp. 722-729
    • Campbell, P.J.1    Stephens, P.J.2    Pleasance, E.D.3
  • 66
    • 70350664649 scopus 로고    scopus 로고
    • De novo transcrip-tome assembly with ABySS
    • Birol I, Jackman SD, Nielsen CB, et al. De novo transcrip-tome assembly with ABySS. Bioinformatics 2009;25(21): 2872-7.
    • (2009) Bioinformatics , vol.25 , Issue.21 , pp. 2872-2877
    • Birol, I.1    Jackman, S.D.2    Nielsen, C.B.3
  • 67
    • 67650064593 scopus 로고    scopus 로고
    • Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes
    • Hormozdiari F, Alkan C, Eichler EE, et al. Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes. Genome Res 2009;19(7): 1270-8.
    • (2009) Genome Res , vol.19 , Issue.7 , pp. 1270-1278
    • Hormozdiari, F.1    Alkan, C.2    Eichler, E.E.3
  • 68
    • 69749122557 scopus 로고    scopus 로고
    • Sensitive and accurate detection of copy number variants using read depth of coverage
    • Yoon S, Xuan Z, Makarov V, et al. Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res 2009;19(9):1586-92.
    • (2009) Genome Res , vol.19 , Issue.9 , pp. 1586-1592
    • Yoon, S.1    Xuan, Z.2    Makarov, V.3
  • 69
    • 77949501694 scopus 로고    scopus 로고
    • CMDS: a population-based method for identifying recurrent DNA copy number aberrations in cancer from high-resolution data
    • Zhang Q, Ding L, Larson DE, et al. CMDS: a population-based method for identifying recurrent DNA copy number aberrations in cancer from high-resolution data. Bioinformatics;26(4):464-9.
    • Bioinformatics , vol.26 , Issue.4 , pp. 464-469
    • Zhang, Q.1    Ding, L.2    Larson, D.E.3
  • 70
    • 77957287451 scopus 로고    scopus 로고
    • Genomics: high-throughput "next-generation" sequencing facilities map
    • Loman N. Genomics: high-throughput "next-generation" sequencing facilities map. High-throughput Sequencing Map 2010. http://pathogenomics.bham.ac.uk/hts.
    • (2010) High-throughput Sequencing Map
    • Loman, N.1
  • 71
    • 77957289024 scopus 로고    scopus 로고
    • Genomics: NextGen sequencers; Illumina (Solexa), ABI SOLiD, Roche/454
    • Google Maps
    • Hadfield J. Genomics: NextGen sequencers; Illumina (Solexa), ABI SOLiD, Roche/454. Microarrays: Illumina BeadStation, Affymetrix. Google Maps, 2009. http://maps.google.com/maps/ms?ie=UTF8&oe=UTF8&msa=0&msid=105818748019109863589.00046217bff07919c 1e07.
    • (2009) Microarrays: Illumina BeadStation, Affymetrix
    • Hadfield, J.1


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