PileLine: a toolbox to handle genome position information in next-generation sequencing studies.

作者: Daniel Glez-Peña , Gonzalo Gómez-López , Miguel Reboiro-Jato , Florentino Fdez-Riverola , David G Pisano

DOI: 10.1186/1471-2105-12-31

关键词:

摘要: Background Genomic position (GP) files currently used in next-generation sequencing (NGS) studies are always difficult to manipulate due their huge size and the lack of appropriate tools properly manage them. The structure these flat is based on representing one line per that has been covered by at least aligned read, imposing significant restrictions from a computational performance perspective.

参考文章(8)
Prateek Kumar, Steven Henikoff, Pauline C Ng, Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nature Protocols. ,vol. 4, pp. 1073- 1081 ,(2009) , 10.1038/NPROT.2009.86
H. Li, B. Handsaker, A. Wysoker, T. Fennell, J. Ruan, N. Homer, G. Marth, G. Abecasis, R. Durbin, , The Sequence Alignment/Map format and SAMtools Bioinformatics. ,vol. 25, pp. 2078- 2079 ,(2009) , 10.1093/BIOINFORMATICS/BTP352
Vasily Ramensky, Peer Bork, Shamil Sunyaev, Human non‐synonymous SNPs: server and survey Nucleic Acids Research. ,vol. 30, pp. 3894- 3900 ,(2002) , 10.1093/NAR/GKF493
D. Blankenberg, J. Taylor, I. Schenck, J. He, Y. Zhang, M. Ghent, N. Veeraraghavan, I. Albert, W. Miller, K. D. Makova, R. C. Hardison, A. Nekrutenko, A framework for collaborative analysis of ENCODE data: Making large-scale analyses biologist-friendly Genome Research. ,vol. 17, pp. 960- 964 ,(2007) , 10.1101/GR.5578007
Michael L. Metzker, Sequencing technologies — the next generation Nature Reviews Genetics. ,vol. 11, pp. 31- 46 ,(2010) , 10.1038/NRG2626
G. Lopez, A. Valencia, M. L. Tress, firestar—prediction of functionally important residues using structural templates and alignment reliability Nucleic Acids Research. ,vol. 35, pp. 573- 577 ,(2007) , 10.1093/NAR/GKM297
Olivier Harismendy, Pauline C Ng, Robert L Strausberg, Xiaoyun Wang, Timothy B Stockwell, Karen Y Beeson, Nicholas J Schork, Sarah S Murray, Eric J Topol, Samuel Levy, Kelly A Frazer, Evaluation of next generation sequencing platforms for population targeted sequencing studies Genome Biology. ,vol. 10, pp. 1- 13 ,(2009) , 10.1186/GB-2009-10-3-R32
Li Ding, Matthew J. Ellis, Shunqiang Li, David E. Larson, Ken Chen, John W. Wallis, Christopher C. Harris, Michael D. McLellan, Robert S. Fulton, Lucinda L. Fulton, Rachel M. Abbott, Jeremy Hoog, David J. Dooling, Daniel C. Koboldt, Heather Schmidt, Joelle Kalicki, Qunyuan Zhang, Lei Chen, Ling Lin, Michael C. Wendl, Joshua F. McMichael, Vincent J. Magrini, Lisa Cook, Sean D. McGrath, Tammi L. Vickery, Elizabeth Appelbaum, Katherine DeSchryver, Sherri Davies, Therese Guintoli, Li Lin, Robert Crowder, Yu Tao, Jacqueline E. Snider, Scott M. Smith, Adam F. Dukes, Gabriel E. Sanderson, Craig S. Pohl, Kim D. Delehaunty, Catrina C. Fronick, Kimberley A. Pape, Jerry S. Reed, Jody S. Robinson, Jennifer S. Hodges, William Schierding, Nathan D. Dees, Dong Shen, Devin P. Locke, Madeline E. Wiechert, James M. Eldred, Josh B. Peck, Benjamin J. Oberkfell, Justin T. Lolofie, Feiyu Du, Amy E. Hawkins, Michelle D. O’Laughlin, Kelly E. Bernard, Mark Cunningham, Glendoria Elliott, Mark D. Mason, Dominic M. Thompson Jr, Jennifer L. Ivanovich, Paul J. Goodfellow, Charles M. Perou, George M. Weinstock, Rebecca Aft, Mark Watson, Timothy J. Ley, Richard K. Wilson, Elaine R. Mardis, Genome remodelling in a basal-like breast cancer metastasis and xenograft Nature. ,vol. 464, pp. 999- 1005 ,(2010) , 10.1038/NATURE08989