메뉴 건너뛰기




Volumn 8, Issue 3, 2013, Pages 333-346

An evaluation of analysis pipelines for DNA methylation profiling using the illumina humanmethylation450 BeadChip platform

Author keywords

DNA methylation; Illumina 450K; Microarray; Normalization; Technical variability

Indexed keywords

CD14 ANTIGEN; DEOXYRIBONUCLEASE;

EID: 84875737335     PISSN: 15592294     EISSN: 15592308     Source Type: Journal    
DOI: 10.4161/epi.24008     Document Type: Article
Times cited : (175)

References (41)
  • 1
    • 79960556965 scopus 로고    scopus 로고
    • Epigenome-wide association studies for common human diseases
    • PMID:21747404
    • Rakyan VK, Down TA, Balding DJ, Beck S. Epigenome-wide association studies for common human diseases. Nat Rev Genet 2011; 12:529-41; PMID:21747404; http://dx.doi.org/10.1038/nrg3000.
    • (2011) Nat Rev Genet , vol.12 , pp. 529-541
    • Rakyan, V.K.1    Down, T.A.2    Balding, D.J.3    Beck, S.4
  • 2
    • 77957965145 scopus 로고    scopus 로고
    • Epigenomics reveals a functional genome anatomy and a new approach to common disease
    • PMID:20944596
    • Feinberg AP. Epigenomics reveals a functional genome anatomy and a new approach to common disease. Nat Biotechnol 2010; 28:1049-52; PMID:20944596; http://dx.doi.org/10.1038/nbt1010-1049.
    • (2010) Nat Biotechnol , vol.28 , pp. 1049-1052
    • Feinberg, A.P.1
  • 3
    • 77953469917 scopus 로고    scopus 로고
    • Epigenetics as a unifying principle in the aetiology of complex traits and diseases
    • PMID:20535201
    • Petronis A. Epigenetics as a unifying principle in the aetiology of complex traits and diseases. Nature 2010; 465:721-7; PMID:20535201; http://dx.doi.org/10.1038/nature09230.
    • (2010) Nature , vol.465 , pp. 721-727
    • Petronis, A.1
  • 4
    • 79960115813 scopus 로고    scopus 로고
    • High resolution detection and analysis of CpG dinucleotides methylation using MBD-Seq technology
    • PMID:21779396
    • Lan X, Adams C, Landers M, Dudas M, Krissinger D, Marnellos G, et al. High resolution detection and analysis of CpG dinucleotides methylation using MBD-Seq technology. PLoS One 2011; 6:e22226; PMID:21779396; http://dx.doi.org/10.1371/journal.pone.0022226.
    • (2011) PLoS One , vol.6
    • Lan, X.1    Adams, C.2    Landers, M.3    Dudas, M.4    Krissinger, D.5    Marnellos, G.6
  • 5
    • 77449127799 scopus 로고    scopus 로고
    • MBD-isolated Genome Sequencing provides a high-throughput and comprehensive survey of DNA methylation in the human genome
    • PMID:19906696
    • Serre D, Lee BH, Ting AH. MBD-isolated Genome Sequencing provides a high-throughput and comprehensive survey of DNA methylation in the human genome. Nucleic Acids Res 2010; 38:391-9; PMID:19906696; http://dx.doi.org/10.1093/nar/gkp992.
    • (2010) Nucleic Acids Res , vol.38 , pp. 391-399
    • Serre, D.1    Lee, B.H.2    Ting, A.H.3
  • 6
    • 84867548134 scopus 로고    scopus 로고
    • Methylated DNA immunoprecipitation (MeDIP) from low amounts of cells
    • PMID:22907495
    • Borgel J, Guibert S, Weber M. Methylated DNA immunoprecipitation (MeDIP) from low amounts of cells. Methods Mol Biol 2012; 925:149-58; PMID:22907495; http://dx.doi.org/10.1007/978-1-62703-011-3_9.
    • (2012) Methods Mol Biol , vol.925 , pp. 149-158
    • Borgel, J.1    Guibert, S.2    Weber, M.3
  • 7
    • 61449426211 scopus 로고    scopus 로고
    • Methylated DNA immunoprecipitation (MeDIP)
    • PMID:18987806
    • Mohn F, Weber M, Schübeler D, Roloff TC. Methylated DNA immunoprecipitation (MeDIP). Methods Mol Biol 2009; 507:55-64; PMID:18987806; http://dx.doi.org/10.1007/978-1-59745-522-0_5.
    • (2009) Methods Mol Biol , vol.507 , pp. 55-64
    • Mohn, F.1    Weber, M.2    Schübeler, D.3    Roloff, T.C.4
  • 8
    • 70450217879 scopus 로고    scopus 로고
    • Human DNA methylomes at base resolution show widespread epigenomic differences
    • PMID:19829295
    • Lister R, Pelizzola M, Dowen RH, Hawkins RD, Hon G, Tonti-Filippini J, et al. Human DNA methylomes at base resolution show widespread epigenomic differences. Nature 2009; 462:315-22; PMID:19829295; http://dx.doi.org/10.1038/nature08514.
    • (2009) Nature , vol.462 , pp. 315-322
    • Lister, R.1    Pelizzola, M.2    Dowen, R.H.3    Hawkins, R.D.4    Hon, G.5    Tonti-Filippini, J.6
  • 9
    • 49649125042 scopus 로고    scopus 로고
    • Genome-scale DNA methylation maps of pluripotent and differentiated cells
    • PMID:18600261
    • Meissner A, Mikkelsen TS, Gu H, Wernig M, Hanna J, Sivachenko A, et al. Genome-scale DNA methylation maps of pluripotent and differentiated cells. Nature 2008; 454:766-70; PMID:18600261.
    • (2008) Nature , vol.454 , pp. 766-770
    • Meissner, A.1    Mikkelsen, T.S.2    Gu, H.3    Wernig, M.4    Hanna, J.5    Sivachenko, A.6
  • 10
    • 43149098062 scopus 로고    scopus 로고
    • Comprehensive high-throughput arrays for relative methylation (CHARM)
    • PMID:18316654
    • Irizarry RA, Ladd-Acosta C, Carvalho B, Wu H, Brandenburg SA, Jeddeloh JA, et al. Comprehensive high-throughput arrays for relative methylation (CHARM). Genome Res 2008; 18:780-90; PMID:18316654; http://dx.doi.org/10.1101/gr.7301508.
    • (2008) Genome Res , vol.18 , pp. 780-790
    • Irizarry, R.A.1    Ladd-Acosta, C.2    Carvalho, B.3    Wu, H.4    Brandenburg, S.A.5    Jeddeloh, J.A.6
  • 11
    • 77957932941 scopus 로고    scopus 로고
    • Comparison of sequencing-based methods to profile DNA methylation and identification of monoallelic epigenetic modifications
    • PMID:20852635
    • Harris RA, Wang T, Coarfa C, Nagarajan RP, Hong C, Downey SL, et al. Comparison of sequencing-based methods to profile DNA methylation and identification of monoallelic epigenetic modifications. Nat Biotechnol 2010; 28:1097-105; PMID:20852635; http://dx.doi.org/10.1038/nbt.1682.
    • (2010) Nat Biotechnol , vol.28 , pp. 1097-1105
    • Harris, R.A.1    Wang, T.2    Coarfa, C.3    Nagarajan, R.P.4    Hong, C.5    Downey, S.L.6
  • 12
    • 80053304450 scopus 로고    scopus 로고
    • High density DNA methylation array with single CpG site resolution
    • PMID:21839163
    • Bibikova M, Barnes B, Tsan C, Ho V, Klotzle B, Le JM, et al. High density DNA methylation array with single CpG site resolution. Genomics 2011; 98:288-95; PMID:21839163; http://dx.doi.org/10.1016/j.ygeno.2011.07.007.
    • (2011) Genomics , vol.98 , pp. 288-295
    • Bibikova, M.1    Barnes, B.2    Tsan, C.3    Ho, V.4    Klotzle, B.5    Le, J.M.6
  • 13
    • 84856306090 scopus 로고    scopus 로고
    • Genome-wide DNA methylation profiling using Infinium® assay
    • PMID:22122642
    • Bibikova M, Le J, Barnes B, Saedinia-Melnyk S, Zhou L, Shen R, et al. Genome-wide DNA methylation profiling using Infinium® assay. Epigenomics 2009; 1:177-200; PMID:22122642; http://dx.doi.org/10.2217/epi.09.14.
    • (2009) Epigenomics , vol.1 , pp. 177-200
    • Bibikova, M.1    Le, J.2    Barnes, B.3    Saedinia-Melnyk, S.4    Zhou, L.5    Shen, R.6
  • 14
    • 79958754527 scopus 로고    scopus 로고
    • Validation of a DNA methylation microarray for 450,000 CpG sites in the human genome
    • PMID:21593595
    • Sandoval J, Heyn HA, Moran S, Serra-Musach J, Pujana MA, Bibikova M, et al. Validation of a DNA methylation microarray for 450,000 CpG sites in the human genome. Epigenetics 2011; 6:692-702; PMID:21593595; http://dx.doi.org/10.4161/epi.6.6.16196.
    • (2011) Epigenetics , vol.6 , pp. 692-702
    • Sandoval, J.1    Heyn, H.A.2    Moran, S.3    Serra-Musach, J.4    Pujana, M.A.5    Bibikova, M.6
  • 15
    • 82455206314 scopus 로고    scopus 로고
    • Evaluation of the Infinium Methylation 450K technology
    • PMID:22126295
    • Dedeurwaerder S, Defrance M, Calonne E, Denis H, Sotiriou C, Fuks F. Evaluation of the Infinium Methylation 450K technology. Epigenomics 2011; 3:771-84; PMID:22126295; http://dx.doi.org/10.2217/epi.11.105.
    • (2011) Epigenomics , vol.3 , pp. 771-784
    • Dedeurwaerder, S.1    Defrance, M.2    Calonne, E.3    Denis, H.4    Sotiriou, C.5    Fuks, F.6
  • 16
    • 84862173149 scopus 로고    scopus 로고
    • SWAN: Subset-quantile within array normalization for illumine infinium HumanMethylation450 BeadChips
    • PMID:22703947
    • Maksimovic J, Gordon L, Oshlack A. SWAN: Subset-quantile within array normalization for illumine infinium HumanMethylation450 BeadChips. Genome Biol 2012; 13:R44; PMID:22703947; http://dx.doi.org/10.1186/gb-2012-13-6-r44.
    • (2012) Genome Biol , vol.13
    • Maksimovic, J.1    Gordon, L.2    Oshlack, A.3
  • 17
    • 84862266444 scopus 로고    scopus 로고
    • Complete pipeline for Infinium(®) Human Methylation 450K BeadChip data processing using subset quantile normalization for accurate DNA methylation estimation
    • PMID:22690668
    • Touleimat N, Tost J. Complete pipeline for Infinium(®) Human Methylation 450K BeadChip data processing using subset quantile normalization for accurate DNA methylation estimation. Epigenomics 2012; 4:325-41; PMID:22690668; http://dx.doi.org/10.2217/epi.12.21.
    • (2012) Epigenomics , vol.4 , pp. 325-341
    • Touleimat, N.1    Tost, J.2
  • 18
    • 84872564830 scopus 로고    scopus 로고
    • A Beta-Mixture Quantile Normalisation method for correcting probe design bias in Illumina Infinium 450k DNA methylation data
    • PMID:23175756
    • Teschendorff AE, Marabita F, Lechner M, Bartlett T, TegnEr J, Gomez-Cabrero D, et al. A Beta-Mixture Quantile Normalisation method for correcting probe design bias in Illumina Infinium 450k DNA methylation data. Bioinformatics 2013; 29:189-96; PMID: 23175756; http://dx.doi.org/10.1093/bioinformatics/bts680
    • (2013) Bioinformatics , vol.29 , pp. 189-196
    • Teschendorff, A.E.1    Marabita, F.2    Lechner, M.3    Bartlett, T.4    Tegner, J.5    Gomez-Cabrero, D.6
  • 19
    • 84863386102 scopus 로고    scopus 로고
    • Bump hunting to identify differentially methylated regions in epigenetic epidemiology studies
    • PMID:22422453
    • Jaffe AE, Murakami P, Lee H, Leek JT, Fallin MD, Feinberg AP, et al. Bump hunting to identify differentially methylated regions in epigenetic epidemiology studies. Int J Epidemiol 2012; 41:200-9; PMID:22422453; http://dx.doi.org/10.1093/ije/dyr238.
    • (2012) Int J Epidemiol , vol.41 , pp. 200-209
    • Jaffe, A.E.1    Murakami, P.2    Lee, H.3    Leek, J.T.4    Fallin, M.D.5    Feinberg, A.P.6
  • 20
    • 84864359044 scopus 로고    scopus 로고
    • Differential DNA meth-ylation in purified human blood cells: Implications for cell lineage and studies on disease susceptibility
    • PMID:22848472
    • Reinius LE, Acevedo N, Joerink M, Pershagen G, Dahlén SE, Greco D, et al. Differential DNA meth-ylation in purified human blood cells: implications for cell lineage and studies on disease susceptibility. PLoS One 2012; 7:e41361; PMID:22848472; http://dx.doi.org/10.1371/journal.pone.0041361.
    • (2012) PLoS One , vol.7
    • Reinius, L.E.1    Acevedo, N.2    Joerink, M.3    Pershagen, G.4    Dahlén, S.E.5    Greco, D.6
  • 21
    • 83455237886 scopus 로고    scopus 로고
    • Batch effect correction for genome-wide methylation data with Illumina Infinium platform
    • PMID:22171553
    • Sun Z, Chai HS, Wu Y, White WM, Donkena KV, Klein CJ, et al. Batch effect correction for genome-wide methylation data with Illumina Infinium platform. BMC Med Genomics 2011; 4:84; PMID:22171553; http://dx.doi.org/10.1186/1755-8794-4-84.
    • (2011) BMC Med Genomics , vol.4 , pp. 84
    • Sun, Z.1    Chai, H.S.2    Wu, Y.3    White, W.M.4    Donkena, K.V.5    Klein, C.J.6
  • 22
    • 0029795558 scopus 로고    scopus 로고
    • Random effects models in latent class analysis for evaluating accuracy of diagnostic tests
    • PMID:8805757
    • Qu Y, Tan M, Kutner MH. Random effects models in latent class analysis for evaluating accuracy of diagnostic tests. Biometrics 1996; 52:797-810; PMID:8805757; http://dx.doi.org/10.2307/2533043.
    • (1996) Biometrics , vol.52 , pp. 797-810
    • Qu, Y.1    Tan, M.2    Kutner, M.H.3
  • 23
    • 0031772593 scopus 로고    scopus 로고
    • Evaluation of diagnostic tests without gold standards
    • PMID:9871952
    • Hui SL, Zhou XH. Evaluation of diagnostic tests without gold standards. Stat Methods Med Res 1998; 7:354-70; PMID:9871952; http://dx.doi.org/10.1191/096228098671192352.
    • (1998) Stat Methods Med Res , vol.7 , pp. 354-370
    • Hui, S.L.1    Zhou, X.H.2
  • 24
    • 78649475003 scopus 로고    scopus 로고
    • Comparison of Beta-value and M-value methods for quantifying methylation levels by microarray analysis
    • PMID:21118553
    • Du P, Zhang X, Huang CC, Jafari N, Kibbe WA, Hou L, et al. Comparison of Beta-value and M-value methods for quantifying methylation levels by microarray analysis. BMC Bioinformatics 2010; 11:587; PMID:21118553; http://dx.doi.org/10.1186/1471-2105-11-587.
    • (2010) BMC Bioinformatics , vol.11 , pp. 587
    • Du, P.1    Zhang, X.2    Huang, C.C.3    Jafari, N.4    Kibbe, W.A.5    Hou, L.6
  • 25
    • 67650090496 scopus 로고    scopus 로고
    • Lineage-specific DNA meth-ylation in T cells correlates with histone methylation and enhancer activity
    • PMID:19494038
    • Schmidl C, Klug M, Boeld TJ, Andreesen R, Hoffmann P, Edinger M, et al. Lineage-specific DNA meth-ylation in T cells correlates with histone methylation and enhancer activity. Genome Res 2009; 19:1165-74; PMID:19494038; http://dx.doi.org/10.1101/gr.091470.109.
    • (2009) Genome Res , vol.19 , pp. 1165-1174
    • Schmidl, C.1    Klug, M.2    Boeld, T.J.3    Andreesen, R.4    Hoffmann, P.5    Edinger, M.6
  • 26
    • 79955583542 scopus 로고    scopus 로고
    • Mapping and analysis of chromatin state dynamics in nine human cell types
    • PMID:21441907
    • Ernst J, Kheradpour P, Mikkelsen TS, Shoresh N, Ward LD, Epstein CB, et al. Mapping and analysis of chromatin state dynamics in nine human cell types. Nature 2011; 473:43-9; PMID:21441907; http://dx.doi.org/10.1038/nature09906.
    • (2011) Nature , vol.473 , pp. 43-49
    • Ernst, J.1    Kheradpour, P.2    Mikkelsen, T.S.3    Shoresh, N.4    Ward, L.D.5    Epstein, C.B.6
  • 27
    • 67349255210 scopus 로고    scopus 로고
    • CpG islands--'a rough guide'
    • PMID:19376112
    • Illingworth RS, Bird AP. CpG islands--'a rough guide'. FEBS Lett 2009; 583:1713-20; PMID:19376112; http://dx.doi.org/10.1016/j.febslet.2009.04.012.
    • (2009) FEBS Lett , vol.583 , pp. 1713-1720
    • Illingworth, R.S.1    Bird, A.P.2
  • 28
    • 84863986133 scopus 로고    scopus 로고
    • Functions of DNA methylation: Islands, start sites, gene bodies and beyond
    • PMID:22641018
    • Jones PA. Functions of DNA methylation: islands, start sites, gene bodies and beyond. Nat Rev Genet 2012; 13:484-92; PMID:22641018; http://dx.doi.org/10.1038/nrg3230.
    • (2012) Nat Rev Genet , vol.13 , pp. 484-492
    • Jones, P.A.1
  • 29
    • 59149084538 scopus 로고    scopus 로고
    • The human colon cancer methylome shows similar hypo-and hypermethylation at conserved tissue-specific CpG island shores
    • PMID:19151715
    • Irizarry RA, Ladd-Acosta C, Wen B, Wu Z, Montano C, Onyango P, et al. The human colon cancer methylome shows similar hypo-and hypermethylation at conserved tissue-specific CpG island shores. Nat Genet 2009; 41:178-86; PMID:19151715; http://dx.doi.org/10.1038/ng.298.
    • (2009) Nat Genet , vol.41 , pp. 178-186
    • Irizarry, R.A.1    Ladd-Acosta, C.2    Wen, B.3    Wu, Z.4    Montano, C.5    Onyango, P.6
  • 30
    • 70649095120 scopus 로고    scopus 로고
    • Differential methylation of tissue-and cancer-specific CpG island shores distinguishes human induced pluripotent stem cells, embryonic stem cells and fibroblasts
    • PMID:19881528
    • Doi A, Park IH, Wen B, Murakami P, Aryee MJ, Irizarry R, et al. Differential methylation of tissue-and cancer-specific CpG island shores distinguishes human induced pluripotent stem cells, embryonic stem cells and fibroblasts. Nat Genet 2009; 41:1350-3; PMID:19881528; http://dx.doi.org/10.1038/ng.471.
    • (2009) Nat Genet , vol.41 , pp. 1350-1353
    • Doi, A.1    Park, I.H.2    Wen, B.3    Murakami, P.4    Aryee, M.J.5    Irizarry, R.6
  • 31
    • 79960927422 scopus 로고    scopus 로고
    • Increased meth-ylation variation in epigenetic domains across cancer types
    • PMID:21706001
    • Hansen KD, Timp W, Bravo HC, Sabunciyan S, Langmead B, McDonald OG, et al. Increased meth-ylation variation in epigenetic domains across cancer types. Nat Genet 2011; 43:768-75; PMID:21706001; http://dx.doi.org/10.1038/ng.865.
    • (2011) Nat Genet , vol.43 , pp. 768-775
    • Hansen, K.D.1    Timp, W.2    Bravo, H.C.3    Sabunciyan, S.4    Langmead, B.5    McDonald, O.G.6
  • 32
    • 0025145277 scopus 로고
    • 5-Methylcytosine as an endogenous mutagen in the human LDL receptor and p53 genes
    • PMID:1697983
    • rd, Coetzee GA, Olumi AF, Jones PA. 5-Methylcytosine as an endogenous mutagen in the human LDL receptor and p53 genes. Science 1990; 249:1288-90; PMID:1697983; http://dx.doi.org/10.1126/science.1697983.
    • (1990) Science , vol.249 , pp. 1288-1290
    • Rideout III, W.M.1    Coetzee, G.A.2    Olumi, A.F.3    Jones, P.A.4
  • 34
    • 84858796263 scopus 로고    scopus 로고
    • IDH1 mutation is sufficient to establish the glioma hypermethylator phenotype
    • PMID:22343889
    • Turcan S, Rohle D, Goenka A, Walsh LA, Fang F, Yilmaz E, et al. IDH1 mutation is sufficient to establish the glioma hypermethylator phenotype. Nature 2012; 483:479-83; PMID:22343889; http://dx.doi.org/10.1038/nature10866.
    • (2012) Nature , vol.483 , pp. 479-483
    • Turcan, S.1    Rohle, D.2    Goenka, A.3    Walsh, L.A.4    Fang, F.5    Yilmaz, E.6
  • 35
    • 84863621527 scopus 로고    scopus 로고
    • Cancer epigenetics: From mechanism to therapy
    • PMID:22770212
    • Dawson MA, Kouzarides T. Cancer epigenetics: from mechanism to therapy. Cell 2012; 150:12-27; PMID:22770212; http://dx.doi.org/10.1016/j.cell.2012.06.013.
    • (2012) Cell , vol.150 , pp. 12-27
    • Dawson, M.A.1    Kouzarides, T.2
  • 36
    • 84867809455 scopus 로고    scopus 로고
    • DNA methylation biomarkers and their utility for solid cancer diagnostics
    • PMID:23089699
    • Heichman KA, Warren JD. DNA methylation biomarkers and their utility for solid cancer diagnostics. Clin Chem Lab Med 2012; 50:1707-21; PMID:23089699; http://dx.doi.org/10.1515/cclm-2011-0935.
    • (2012) Clin Chem Lab Med , vol.50 , pp. 1707-1721
    • Heichman, K.A.1    Warren, J.D.2
  • 37
    • 85027954125 scopus 로고    scopus 로고
    • DNA methylation profiling in the clinic: Applications and challenges
    • PMID:22945394
    • Heyn H, Esteller M. DNA methylation profiling in the clinic: applications and challenges. Nat Rev Genet 2012; 13:679-92; PMID:22945394; http://dx.doi.org/10.1038/nrg3270.
    • (2012) Nat Rev Genet , vol.13 , pp. 679-692
    • Heyn, H.1    Esteller, M.2
  • 38
    • 77249137168 scopus 로고    scopus 로고
    • Principles and challenges of genomewide DNA methylation analysis
    • PMID:20125086
    • Laird PW. Principles and challenges of genomewide DNA methylation analysis. Nat Rev Genet 2010; 11:191-203; PMID:20125086; http://dx.doi.org/10.1038/nrg2732.
    • (2010) Nat Rev Genet , vol.11 , pp. 191-203
    • Laird, P.W.1
  • 39
    • 34848914038 scopus 로고    scopus 로고
    • Capturing heterogeneity in gene expression studies by surrogate variable analysis
    • PMID:17907809
    • Leek JT, Storey JD. Capturing heterogeneity in gene expression studies by surrogate variable analysis. PLoS Genet 2007; 3:1724-35; PMID:17907809; http://dx.doi.org/10.1371/journal.pgen.0030161.
    • (2007) PLoS Genet , vol.3 , pp. 1724-1735
    • Leek, J.T.1    Storey, J.D.2
  • 40
    • 46249088370 scopus 로고    scopus 로고
    • lumi: A pipeline for processing Illumina microarray
    • PMID:18467348
    • Du P, Kibbe WA, Lin SM. lumi: a pipeline for processing Illumina microarray. Bioinformatics 2008; 24:1547-8; PMID:18467348; http://dx.doi.org/10.1093/bioinformatics/btn224.
    • (2008) Bioinformatics , vol.24 , pp. 1547-1548
    • Du, P.1    Kibbe, W.A.2    Lin, S.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.