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Volumn 15, Issue 11, 2014, Pages

Whole genome sequencing of 35 individuals provides insights into the genetic architecture of Korean population

Author keywords

Genetics; Genome; Korean; Population; Sequencing; Variant

Indexed keywords

ARCHITECTURE; GENES; PIPELINES;

EID: 84961678098     PISSN: None     EISSN: 14712105     Source Type: Journal    
DOI: 10.1186/1471-2105-15-S11-S6     Document Type: Article
Times cited : (27)

References (42)
  • 1
    • 82555161920 scopus 로고    scopus 로고
    • Human genome finally complete
    • Noble I: Human genome finally complete. BBC news. 2003
    • (2003) BBC news
    • Noble, I.1
  • 3
    • 79951481957 scopus 로고    scopus 로고
    • Initial impact of the sequencing of the human genome
    • Lander ES: Initial impact of the sequencing of the human genome. Nature. 2011, 470 (7333): 187-197. 10.1038/nature09792.
    • (2011) Nature , vol.470 , Issue.7333 , pp. 187-197
    • Lander, E.S.1
  • 7
    • 84961578106 scopus 로고    scopus 로고
    • Genome-Wide Association Studies of Type 2 Diabetes: Current Status, Open Challenges, and Future Perspectives
    • Edited by: D B, K B, MA M. CRC Press
    • Hong H, Xu L, Mendrick DL, Tong W: Genome-Wide Association Studies of Type 2 Diabetes: Current Status, Open Challenges, and Future Perspectives. OMICS: Biomedical Perspectives and Applications. Edited by: D B, K B, MA M. 2011, CRC Press, 401-430.
    • (2011) OMICS: Biomedical Perspectives and Applications , pp. 401-430
    • Hong, H.1    Xu, L.2    Mendrick, D.L.3    Tong, W.4
  • 8
    • 53649106195 scopus 로고    scopus 로고
    • Next-generation DNA sequencing
    • Shendure J, Ji H: Next-generation DNA sequencing. Nat Biotechnol. 2008, 26 (10): 1135-1145. 10.1038/nbt1486.
    • (2008) Nat Biotechnol , vol.26 , Issue.10 , pp. 1135-1145
    • Shendure, J.1    Ji, H.2
  • 9
    • 77952574849 scopus 로고    scopus 로고
    • Uncovering the roles of rare variants in common disease through whole-genome sequencing
    • Cirulli ET, Goldstein DB: Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet. 2010, 11 (6): 415-425. 10.1038/nrg2779.
    • (2010) Nat Rev Genet , vol.11 , Issue.6 , pp. 415-425
    • Cirulli, E.T.1    Goldstein, D.B.2
  • 10
    • 84874008918 scopus 로고    scopus 로고
    • Evaluating rare variants in complex disorders using next-generation sequencing
    • Ezewudo M, Zwick ME: Evaluating rare variants in complex disorders using next-generation sequencing. Curr Psychiatry Rep. 2013, 15 (4): 349-
    • (2013) Curr Psychiatry Rep , vol.15 , Issue.4 , pp. 349
    • Ezewudo, M.1    Zwick, M.E.2
  • 11
    • 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. 2009, 55 (4): 641-658. 10.1373/clinchem.2008.112789.
    • (2009) Clin Chem , vol.55 , Issue.4 , pp. 641-658
    • Voelkerding, K.V.1    Dames, S.A.2    Durtschi, J.D.3
  • 12
    • 84882242146 scopus 로고    scopus 로고
    • Next generation sequencing and rare genetic variants: from human population studies to medical genetics
    • Matullo G, Di Gaetano C, Guarrera S: Next generation sequencing and rare genetic variants: from human population studies to medical genetics. Environ Mol Mutagen. 2013, 54 (7): 518-532. 10.1002/em.21799.
    • (2013) Environ Mol Mutagen , vol.54 , Issue.7 , pp. 518-532
    • Matullo, G.1    Di Gaetano, C.2    Guarrera, S.3
  • 13
    • 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): 133-141. 10.1016/j.tig.2007.12.007.
    • (2008) Trends Genet , vol.24 , Issue.3 , pp. 133-141
    • Mardis, E.R.1
  • 14
    • 84873705940 scopus 로고    scopus 로고
    • Critical role of bioinformatics in translating huge amounts of next-generation sequencing data into personalized medicine
    • Hong H, Zhang W, Shen J, Su Z, Ning B, Han T, Perkins R, Shi L, Tong W: Critical role of bioinformatics in translating huge amounts of next-generation sequencing data into personalized medicine. Sci China Life Sci. 2013, 56 (2): 110-118. 10.1007/s11427-013-4439-7.
    • (2013) Sci China Life Sci , vol.56 , Issue.2 , pp. 110-118
    • Hong, H.1    Zhang, W.2    Shen, J.3    Su, Z.4    Ning, B.5    Han, T.6    Perkins, R.7    Shi, L.8    Tong, W.9
  • 16
    • 84857641821 scopus 로고    scopus 로고
    • Differential confounding of rare and common variants in spatially structured populations
    • Mathieson I, McVean G: Differential confounding of rare and common variants in spatially structured populations. Nat Genet. 2012, 44 (3): 243-246. 10.1038/ng.1074.
    • (2012) Nat Genet , vol.44 , Issue.3 , pp. 243-246
    • Mathieson, I.1    McVean, G.2
  • 17
    • 79960946869 scopus 로고    scopus 로고
    • Rare and common regulatory variation in population-scale sequenced human genomes
    • Montgomery SB, Lappalainen T, Gutierrez-Arcelus M, Dermitzakis ET: Rare and common regulatory variation in population-scale sequenced human genomes. PLoS Genet. 2011, 7 (7): e1002144-10.1371/journal.pgen.1002144.
    • (2011) PLoS Genet , vol.7 , Issue.7 , pp. e1002144
    • Montgomery, S.B.1    Lappalainen, T.2    Gutierrez-Arcelus, M.3    Dermitzakis, E.T.4
  • 18
    • 84881664021 scopus 로고    scopus 로고
    • Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing
    • Jiang YH, Yuen RK, Jin X, Wang M, Chen N, Wu X, Ju J, Mei J, Shi Y, He M: Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am J Hum Genet. 2013, 93 (2): 249-263. 10.1016/j.ajhg.2013.06.012.
    • (2013) Am J Hum Genet , vol.93 , Issue.2 , pp. 249-263
    • Jiang, Y.H.1    Yuen, R.K.2    Jin, X.3    Wang, M.4    Chen, N.5    Wu, X.6    Ju, J.7    Mei, J.8    Shi, Y.9    He, M.10
  • 19
    • 84889853996 scopus 로고    scopus 로고
    • Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship
    • Liu G, Guo S, Kang H, Zhang F, Hu Y, Wang L, Li M, Ru Y, Camaschella C, Han B: Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship. Haematologica. 2013, 98 (12): e158-160. 10.3324/haematol.2013.095513.
    • (2013) Haematologica , vol.98 , Issue.12 , pp. e158-160
    • Liu, G.1    Guo, S.2    Kang, H.3    Zhang, F.4    Hu, Y.5    Wang, L.6    Li, M.7    Ru, Y.8    Camaschella, C.9    Han, B.10
  • 21
    • 79959503826 scopus 로고    scopus 로고
    • The International HapMap Project
    • The International HapMap Consortium: The International HapMap Project. Nature. 2003, 426 (6968): 789-796. 10.1038/nature02168.
    • (2003) Nature , vol.426 , Issue.6968 , pp. 789-796
  • 22
    • 38549122239 scopus 로고    scopus 로고
    • International genome project launched
    • Hayden EC: International genome project launched. Nature. 2008, 451 (7177): 378-379.
    • (2008) Nature , vol.451 , Issue.7177 , pp. 378-379
    • Hayden, E.C.1
  • 27
    • 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, Kim D, Ghang H, Kim DS, Kim BC, Kim SY, Kim WY, Kim C: The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group. Genome Res. 2009, 19 (9): 1622-1629. 10.1101/gr.092197.109.
    • (2009) Genome Res , vol.19 , Issue.9 , pp. 1622-1629
    • Ahn, S.M.1    Kim, T.H.2    Lee, S.3    Kim, D.4    Ghang, H.5    Kim, D.S.6    Kim, B.C.7    Kim, S.Y.8    Kim, W.Y.9    Kim, C.10
  • 28
    • 79960914208 scopus 로고    scopus 로고
    • Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals
    • Ju YS, Kim JI, Kim S, Hong D, Park H, Shin JY, Lee S, Lee WC, Yu SB, Park SS: Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals. Nat Genet. 2011, 43 (8): 745-752. 10.1038/ng.872.
    • (2011) Nat Genet , vol.43 , Issue.8 , pp. 745-752
    • Ju, Y.S.1    Kim, J.I.2    Kim, S.3    Hong, D.4    Park, H.5    Shin, J.Y.6    Lee, S.7    Lee, W.C.8    Yu, S.B.9    Park, S.S.10
  • 31
    • 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): 1754-1760. 10.1093/bioinformatics/btp324.
    • (2009) Bioinformatics , vol.25 , Issue.14 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 33
    • 67650711615 scopus 로고    scopus 로고
    • SOAP2: an improved ultrafast tool for short read alignment
    • Li R, Yu C, Li Y, Lam TW, Yiu SM, Kristiansen K, Wang J: SOAP2: an improved ultrafast tool for short read alignment. Bioinformatics. 2009, 25 (15): 1966-1967. 10.1093/bioinformatics/btp336.
    • (2009) Bioinformatics , vol.25 , Issue.15 , pp. 1966-1967
    • Li, R.1    Yu, C.2    Li, Y.3    Lam, T.W.4    Yiu, S.M.5    Kristiansen, K.6    Wang, J.7
  • 34
    • 66449114324 scopus 로고    scopus 로고
    • SNP detection for massively parallel whole-genome resequencing
    • Li R, Li Y, Fang X, Yang H, Wang J, Kristiansen K: SNP detection for massively parallel whole-genome resequencing. Genome Res. 2009, 19 (6): 1124-1132. 10.1101/gr.088013.108.
    • (2009) Genome Res , vol.19 , Issue.6 , pp. 1124-1132
    • Li, R.1    Li, Y.2    Fang, X.3    Yang, H.4    Wang, J.5    Kristiansen, K.6
  • 35
    • 84875608234 scopus 로고    scopus 로고
    • The UCSC genome browser and associated tools
    • Kuhn RM, Haussler D, Kent WJ: The UCSC genome browser and associated tools. Brief Bioinform. 2013, 14 (2): 144-161. 10.1093/bib/bbs038.
    • (2013) Brief Bioinform , vol.14 , Issue.2 , pp. 144-161
    • Kuhn, R.M.1    Haussler, D.2    Kent, W.J.3
  • 36
    • 77955405475 scopus 로고    scopus 로고
    • Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
    • McLaren W, Pritchard B, Rios D, Chen Y, Flicek P, Cunningham F: Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics. 2010, 26 (16): 2069-2070. 10.1093/bioinformatics/btq330.
    • (2010) Bioinformatics , vol.26 , Issue.16 , pp. 2069-2070
    • McLaren, W.1    Pritchard, B.2    Rios, D.3    Chen, Y.4    Flicek, P.5    Cunningham, F.6
  • 37
    • 23144464901 scopus 로고    scopus 로고
    • WebGestalt: an integrated system for exploring gene sets in various biological contexts
    • Zhang B, Kirov S, Snoddy J: WebGestalt: an integrated system for exploring gene sets in various biological contexts. Nucleic Acids Res. 2005, 33 (Web Server): W741-748. 10.1093/nar/gki475.
    • (2005) Nucleic Acids Res , vol.33 , Issue.WEB SERVER , pp. W741-748
    • Zhang, B.1    Kirov, S.2    Snoddy, J.3
  • 38
    • 84880617636 scopus 로고    scopus 로고
    • WEB-based GEne SeT AnaLysis Toolkit (WebGestalt): update 2013
    • Wang J, Duncan D, Shi Z, Zhang B: WEB-based GEne SeT AnaLysis Toolkit (WebGestalt): update 2013. Nucleic Acids Res. 2013, 41 (Web Server): W77-83.
    • (2013) Nucleic Acids Res , vol.41 , Issue.WEB SERVER , pp. W77-83
    • Wang, J.1    Duncan, D.2    Shi, Z.3    Zhang, B.4
  • 39
    • 0001677717 scopus 로고
    • Controlling the false discovery rate: a practical and powerful approach to multiple testing
    • Benjamini Y, Hochberg Y: Controlling the false discovery rate: a practical and powerful approach to multiple testing. Journal of the Royal Statistical Society Series. 1995, B (57): 289-300.
    • (1995) Journal of the Royal Statistical Society Series , vol.PART B , Issue.57 , pp. 289-300
    • Benjamini, Y.1    Hochberg, Y.2
  • 42
    • 75749103383 scopus 로고    scopus 로고
    • Rate, molecular spectrum, and consequences of human mutation
    • Lynch M: Rate, molecular spectrum, and consequences of human mutation. Proc Natl Acad Sci USA. 2010, 107 (3): 961-968. 10.1073/pnas.0912629107.
    • (2010) Proc Natl Acad Sci USA , vol.107 , Issue.3 , pp. 961-968
    • Lynch, M.1


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