Analysis of next-generation genomic data in cancer: accomplishments and challenges

被引:94
作者
Ding, Li [1 ]
Wendl, Michael C. [1 ]
Koboldt, Daniel C. [1 ]
Mardis, Elaine R. [1 ]
机构
[1] Washington Univ, Sch Med, Genome Ctr, Dept Genet, St Louis, MO 63108 USA
基金
美国国家卫生研究院;
关键词
PATTERN GROWTH APPROACH; SOMATIC MUTATIONS; HUMAN BREAST; SEQUENCE; PATHWAYS; REARRANGEMENTS; SIGNATURES; VARIANTS; GENE; READ;
D O I
10.1093/hmg/ddq391
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The application of next-generation sequencing technology has produced a transformation in cancer genomics, generating large data sets that can be analyzed in different ways to answer a multitude of questions about the genomic alterations associated with the disease. Analytical approaches can discover focused mutations such as substitutions and small insertion/deletions, large structural alterations and copy number events. As our capacity to produce such data for multiple cancers of the same type is improving, so are the demands to analyze multiple tumor genomes simultaneously growing. For example, pathway-based analyses that provide the full mutational impact on cellular protein networks and correlation analyses aimed at revealing causal relationships between genomic alterations and clinical presentations are both enabled. As the repertoire of data grows to include mRNA-seq, non-coding RNA-seq and methylation for multiple genomes, our challenge will be to intelligently integrate data types and genomes to produce a coherent picture of the genetic basis of cancer.
引用
收藏
页码:R188 / R196
页数:9
相关论文
共 53 条
  • [1] Accurate whole human genome sequencing using reversible terminator chemistry
    Bentley, David R.
    Balasubramanian, Shankar
    Swerdlow, Harold P.
    Smith, Geoffrey P.
    Milton, John
    Brown, Clive G.
    Hall, Kevin P.
    Evers, Dirk J.
    Barnes, Colin L.
    Bignell, Helen R.
    Boutell, Jonathan M.
    Bryant, Jason
    Carter, Richard J.
    Cheetham, R. Keira
    Cox, Anthony J.
    Ellis, Darren J.
    Flatbush, Michael R.
    Gormley, Niall A.
    Humphray, Sean J.
    Irving, Leslie J.
    Karbelashvili, Mirian S.
    Kirk, Scott M.
    Li, Heng
    Liu, Xiaohai
    Maisinger, Klaus S.
    Murray, Lisa J.
    Obradovic, Bojan
    Ost, Tobias
    Parkinson, Michael L.
    Pratt, Mark R.
    Rasolonjatovo, Isabelle M. J.
    Reed, Mark T.
    Rigatti, Roberto
    Rodighiero, Chiara
    Ross, Mark T.
    Sabot, Andrea
    Sankar, Subramanian V.
    Scally, Aylwyn
    Schroth, Gary P.
    Smith, Mark E.
    Smith, Vincent P.
    Spiridou, Anastassia
    Torrance, Peta E.
    Tzonev, Svilen S.
    Vermaas, Eric H.
    Walter, Klaudia
    Wu, Xiaolin
    Zhang, Lu
    Alam, Mohammed D.
    Anastasi, Carole
    [J]. NATURE, 2008, 456 (7218) : 53 - 59
  • [2] The landscape of somatic copy-number alteration across human cancers
    Beroukhim, Rameen
    Mermel, Craig H.
    Porter, Dale
    Wei, Guo
    Raychaudhuri, Soumya
    Donovan, Jerry
    Barretina, Jordi
    Boehm, Jesse S.
    Dobson, Jennifer
    Urashima, Mitsuyoshi
    Mc Henry, Kevin T.
    Pinchback, Reid M.
    Ligon, Azra H.
    Cho, Yoon-Jae
    Haery, Leila
    Greulich, Heidi
    Reich, Michael
    Winckler, Wendy
    Lawrence, Michael S.
    Weir, Barbara A.
    Tanaka, Kumiko E.
    Chiang, Derek Y.
    Bass, Adam J.
    Loo, Alice
    Hoffman, Carter
    Prensner, John
    Liefeld, Ted
    Gao, Qing
    Yecies, Derek
    Signoretti, Sabina
    Maher, Elizabeth
    Kaye, Frederic J.
    Sasaki, Hidefumi
    Tepper, Joel E.
    Fletcher, Jonathan A.
    Tabernero, Josep
    Baselga, Jose
    Tsao, Ming-Sound
    Demichelis, Francesca
    Rubin, Mark A.
    Janne, Pasi A.
    Daly, Mark J.
    Nucera, Carmelo
    Levine, Ross L.
    Ebert, Benjamin L.
    Gabriel, Stacey
    Rustgi, Anil K.
    Antonescu, Cristina R.
    Ladanyi, Marc
    Letai, Anthony
    [J]. NATURE, 2010, 463 (7283) : 899 - 905
  • [3] Architectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolution
    Bignell, Graham R.
    Santarius, Thomas
    Pole, Jessica C. M.
    Butler, Adam P.
    Perry, Janet
    Pleasance, Erin
    Greenman, Chris
    Menzies, Andrew
    Taylor, Sheila
    Edkins, Sarah
    Campbell, Peter
    Quail, Michael
    Plumb, Bob
    Matthews, Lucy
    Mclay, Kirsten
    Edwards, Paul A. W.
    Rogers, Jane
    Wooster, Richard
    Futreal, P. Andrew
    Stratton, Michael R.
    [J]. GENOME RESEARCH, 2007, 17 (09) : 1296 - 1303
  • [4] Signatures of mutation and selection in the cancer genome
    Bignell, Graham R.
    Greenman, Chris D.
    Davies, Helen
    Butler, Adam P.
    Edkins, Sarah
    Andrews, Jenny M.
    Buck, Gemma
    Chen, Lina
    Beare, David
    Latimer, Calli
    Widaa, Sara
    Hinton, Jonathon
    Fahey, Ciara
    Fu, Beiyuan
    Swamy, Sajani
    Dalgliesh, Gillian L.
    Teh, Bin T.
    Deloukas, Panos
    Yang, Fengtang
    Campbell, Peter J.
    Futreal, P. Andrew
    Stratton, Michael R.
    [J]. NATURE, 2010, 463 (7283) : 893 - U61
  • [5] Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
    Campbell, Peter J.
    Stephens, Philip J.
    Pleasance, Erin D.
    O'Meara, Sarah
    Li, Heng
    Santarius, Thomas
    Stebbings, Lucy A.
    Leroy, Catherine
    Edkins, Sarah
    Hardy, Claire
    Teague, Jon W.
    Menzies, Andrew
    Goodhead, Ian
    Turner, Daniel J.
    Clee, Christopher M.
    Quail, Michael A.
    Cox, Antony
    Brown, Clive
    Durbin, Richard
    Hurles, Matthew E.
    Edwards, Paul A. W.
    Bignell, Graham R.
    Stratton, Michael R.
    Futreal, P. Andrew
    [J]. NATURE GENETICS, 2008, 40 (06) : 722 - 729
  • [6] Automated Network Analysis Identifies Core Pathways in Glioblastoma
    Cerami, Ethan
    Demir, Emek
    Schultz, Nikolaus
    Taylor, Barry S.
    Sander, Chris
    [J]. PLOS ONE, 2010, 5 (02):
  • [7] Chen K, 2009, NAT METHODS, V6, P677, DOI [10.1038/NMETH.1363, 10.1038/nmeth.1363]
  • [8] High-resolution mapping of copy-number alterations with massively parallel sequencing
    Chiang, Derek Y.
    Getz, Gad
    Jaffe, David B.
    O'Kelly, Michael J. T.
    Zhao, Xiaojun
    Carter, Scott L.
    Russ, Carsten
    Nusbaum, Chad
    Meyerson, Matthew
    Lander, Eric S.
    [J]. NATURE METHODS, 2009, 6 (01) : 99 - 103
  • [9] Comprehensive genomic characterization defines human glioblastoma genes and core pathways
    Chin, L.
    Meyerson, M.
    Aldape, K.
    Bigner, D.
    Mikkelsen, T.
    VandenBerg, S.
    Kahn, A.
    Penny, R.
    Ferguson, M. L.
    Gerhard, D. S.
    Getz, G.
    Brennan, C.
    Taylor, B. S.
    Winckler, W.
    Park, P.
    Ladanyi, M.
    Hoadley, K. A.
    Verhaak, R. G. W.
    Hayes, D. N.
    Spellman, Paul T.
    Absher, D.
    Weir, B. A.
    Ding, L.
    Wheeler, D.
    Lawrence, M. S.
    Cibulskis, K.
    Mardis, E.
    Zhang, Jinghui
    Wilson, R. K.
    Donehower, L.
    Wheeler, D. A.
    Purdom, E.
    Wallis, J.
    Laird, P. W.
    Herman, J. G.
    Schuebel, K. E.
    Weisenberger, D. J.
    Baylin, S. B.
    Schultz, N.
    Yao, Jun
    Wiedemeyer, R.
    Weinstein, J.
    Sander, C.
    Gibbs, R. A.
    Gray, J.
    Kucherlapati, R.
    Lander, E. S.
    Myers, R. M.
    Perou, C. M.
    McLendon, Roger
    [J]. NATURE, 2008, 455 (7216) : 1061 - 1068
  • [10] U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line
    Clark, Michael James
    Homer, Nils
    O'Connor, Brian D.
    Chen, Zugen
    Eskin, Ascia
    Lee, Hane
    Merriman, Barry
    Nelson, Stanley F.
    [J]. PLOS GENETICS, 2010, 6 (01):